gene frequency

Summary

Summary: The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.

Top Publications

  1. pmc Inference of population structure using multilocus genotype data: linked loci and correlated allele frequencies
    Daniel Falush
    Department of Molecular Biology, Max Planck Institut für Infektionsbiologie, Schumann Strasse 21 22, 10117 Berlin, Germany
    Genetics 164:1567-87. 2003
  2. ncbi Detecting the number of clusters of individuals using the software STRUCTURE: a simulation study
    G Evanno
    Department of Ecology and Evolution, Biology Building, University of Lausanne, CH 1015 Lausanne, Switzerland
    Mol Ecol 14:2611-20. 2005
  3. pmc Description and power analysis of two tests for detecting recent population bottlenecks from allele frequency data
    J M Cornuet
    Laboratoire Population, Genetique, Evolution, CNRS, Gif sur Yvette, France
    Genetics 144:2001-14. 1996
  4. pmc Fast model-based estimation of ancestry in unrelated individuals
    David H Alexander
    Department of Biomathematics, University of California at Los Angeles, Los Angeles, California 90095, USA
    Genome Res 19:1655-64. 2009
  5. ncbi Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families
    E H Corder
    Department of Medicine, Joseph and Kathleen Bryan Alzheimer s Disease Research Center, Duke University Medical Center, Durham, NC 27710
    Science 261:921-3. 1993
  6. pmc A new statistical method for haplotype reconstruction from population data
    M Stephens
    Department of Statistics, University of Oxford
    Am J Hum Genet 68:978-89. 2001
  7. pmc Rare-variant association testing for sequencing data with the sequence kernel association test
    Michael C Wu
    Department of Biostatistics, The University of North Carolina at Chapel Hill, 27599, USA
    Am J Hum Genet 89:82-93. 2011
  8. pmc A unified approach to genotype imputation and haplotype-phase inference for large data sets of trios and unrelated individuals
    Brian L Browning
    Department of Statistics, University of Auckland, Auckland 1142, New Zealand
    Am J Hum Genet 84:210-23. 2009
  9. ncbi PowerMarker: an integrated analysis environment for genetic marker analysis
    Kejun Liu
    Bioinformatics Research Center, North Carolina State University Raleigh, 27695 7566, USA
    Bioinformatics 21:2128-9. 2005
  10. pmc Development and characterization of a high density SNP genotyping assay for cattle
    Lakshmi K Matukumalli
    Department of Bioinformatics and Computational Biology, George Mason University, Manassas, Virginia, United States of America
    PLoS ONE 4:e5350. 2009

Research Grants

  1. Role of Periostin in Polycystic Kidney Disease
    Darren P Wallace; Fiscal Year: 2013
  2. GnRH Receptor Signaling Specificity
    Stuart C Sealfon; Fiscal Year: 2013
  3. Examining Circadian Changes in Genome Structure
    William J Belden; Fiscal Year: 2013
  4. GENETIC PREDISPOSITION TESTING IN COLORECTAL CANCER
    Deborah Schrag; Fiscal Year: 2003
  5. Effects of Formyl Peptide Receptor variants on function
    John Mills; Fiscal Year: 2005
  6. GENETIC DIFFERENTIATION IN AEDES ALBOPICIUS SUBGROUP
    KARAMJIT RAI; Fiscal Year: 1991
  7. EVOLUTIONARY DYNAMICS OF GENE-FOR-GENE SYSTEMS
    Joy Bergelson; Fiscal Year: 2004
  8. THERAPY FOR ALPHA-1 ANTITRYPSIN DEFECIENCY
    GORDON SNIDER; Fiscal Year: 1999
  9. Interoperation of Genome Databases and Tools
    Kei Hoi Cheung; Fiscal Year: 2005
  10. SPATIAL ANALYSIS OF HUMAN VARIATION
    ROBERT SOKAL; Fiscal Year: 1991

Detail Information

Publications261 found, 100 shown here

  1. pmc Inference of population structure using multilocus genotype data: linked loci and correlated allele frequencies
    Daniel Falush
    Department of Molecular Biology, Max Planck Institut für Infektionsbiologie, Schumann Strasse 21 22, 10117 Berlin, Germany
    Genetics 164:1567-87. 2003
    ..The methods are implemented in a program, structure, version 2.0, which is available at http://pritch.bsd.uchicago.edu...
  2. ncbi Detecting the number of clusters of individuals using the software STRUCTURE: a simulation study
    G Evanno
    Department of Ecology and Evolution, Biology Building, University of Lausanne, CH 1015 Lausanne, Switzerland
    Mol Ecol 14:2611-20. 2005
    ..As might be expected, the results are sensitive to the type of genetic marker used (AFLP vs. microsatellite), the number of loci scored, the number of populations sampled, and the number of individuals typed in each sample...
  3. pmc Description and power analysis of two tests for detecting recent population bottlenecks from allele frequency data
    J M Cornuet
    Laboratoire Population, Genetique, Evolution, CNRS, Gif sur Yvette, France
    Genetics 144:2001-14. 1996
    ..The usefulness of these tests for conservation biology is discussed...
  4. pmc Fast model-based estimation of ancestry in unrelated individuals
    David H Alexander
    Department of Biomathematics, University of California at Los Angeles, Los Angeles, California 90095, USA
    Genome Res 19:1655-64. 2009
    ....
  5. ncbi Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families
    E H Corder
    Department of Medicine, Joseph and Kathleen Bryan Alzheimer s Disease Research Center, Duke University Medical Center, Durham, NC 27710
    Science 261:921-3. 1993
    ..Thus APOE-epsilon 4 gene dose is a major risk factor for late onset AD and, in these families, homozygosity for APOE-epsilon 4 was virtually sufficient to cause AD by age 80...
  6. pmc A new statistical method for haplotype reconstruction from population data
    M Stephens
    Department of Statistics, University of Oxford
    Am J Hum Genet 68:978-89. 2001
    ..Furthermore, our algorithm performs well in absolute terms, suggesting that reconstructing haplotypes experimentally or by genotyping additional family members may be an inefficient use of resources...
  7. pmc Rare-variant association testing for sequencing data with the sequence kernel association test
    Michael C Wu
    Department of Biostatistics, The University of North Carolina at Chapel Hill, 27599, USA
    Am J Hum Genet 89:82-93. 2011
    ..We also provide analytic power and sample-size calculations to help design candidate-gene, whole-exome, and whole-genome sequence association studies...
  8. pmc A unified approach to genotype imputation and haplotype-phase inference for large data sets of trios and unrelated individuals
    Brian L Browning
    Department of Statistics, University of Auckland, Auckland 1142, New Zealand
    Am J Hum Genet 84:210-23. 2009
    ..We present a useful measure of imputation accuracy, allelic R(2), and show that this measure can be estimated accurately from posterior genotype probabilities. Our methods are implemented in version 3.0 of the BEAGLE software package...
  9. ncbi PowerMarker: an integrated analysis environment for genetic marker analysis
    Kejun Liu
    Bioinformatics Research Center, North Carolina State University Raleigh, 27695 7566, USA
    Bioinformatics 21:2128-9. 2005
    ..It accelerates the analysis lifecycle and enables users to maintain data integrity throughout the process. An ever-growing list of more than 50 different statistical analyses for genetic markers has been implemented in PowerMarker...
  10. pmc Development and characterization of a high density SNP genotyping assay for cattle
    Lakshmi K Matukumalli
    Department of Bioinformatics and Computational Biology, George Mason University, Manassas, Virginia, United States of America
    PLoS ONE 4:e5350. 2009
    ..The BovineSNP50 assay described here is commercially available from Illumina and provides a robust platform for mapping disease genes and QTL in cattle...
  11. ncbi Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits
    S Purcell
    Social, Genetics and Developmental Psychiatry Research Centre, Institute of Psychiatry, King s College London, De Crespigny Park, UK
    Bioinformatics 19:149-50. 2003
    ..A website for performing power calculations for the design of linkage and association genetic mapping studies of complex traits...
  12. pmc Inferring the joint demographic history of multiple populations from multidimensional SNP frequency data
    Ryan N Gutenkunst
    Theoretical Biology and Biophysics and Center for Nonlinear Studies, Los Alamos National Laboratory, Los Alamos, New Mexico, USA
    PLoS Genet 5:e1000695. 2009
    ....
  13. pmc Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease
    Gosia Trynka
    Genetics Department, University Medical Center and University of Groningen, The Netherlands
    Nat Genet 43:1193-201. 2011
    ..Altogether, we define the complex genetic architecture of the risk regions of and refine the risk signals for celiac disease, providing the next step toward uncovering the causal mechanisms of the disease...
  14. pmc Reconstructing Indian population history
    David Reich
    Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA
    Nature 461:489-94. 2009
    ..We therefore predict that there will be an excess of recessive diseases in India, which should be possible to screen and map genetically...
  15. ncbi Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: the SzGene database
    Nicole C Allen
    Genetics and Aging Research Unit, MassGeneral Institute for Neurodegenerative Disease, Department of Neurology, Massachusetts General Hospital, Charlestown, Massachusetts 02129, USA
    Nat Genet 40:827-34. 2008
    ..As such, it could serve as a model for field synopses of genetic associations in other common and genetically complex disorders...
  16. pmc Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans
    Sekar Kathiresan
    Cardiology Division, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    Nat Genet 40:189-97. 2008
    ..Understanding the molecular, cellular and clinical consequences of the newly identified loci may inform therapy and clinical care...
  17. ncbi Microsatellites: simple sequences with complex evolution
    Hans Ellegren
    Department of Evolutionary Biology, Evolutionary Biology Centre, Uppsala University, Norbyvagen 18D, SE 752 36 Uppsala, Sweden
    Nat Rev Genet 5:435-45. 2004
  18. pmc Sequencing of 50 human exomes reveals adaptation to high altitude
    Xin Yi
    BGI Shenzhen, Shenzhen 518083, China
    Science 329:75-8. 2010
    ..This SNP's association with erythrocyte abundance supports the role of EPAS1 in adaptation to hypoxia. Thus, a population genomic survey has revealed a functionally important locus in genetic adaptation to high altitude...
  19. pmc A simple correction for multiple testing for single-nucleotide polymorphisms in linkage disequilibrium with each other
    Dale R Nyholt
    Genetic Epidemiology Laboratory, Queensland Institute of Medical Research, Brisbane, Queensland, Australia
    Am J Hum Genet 74:765-9. 2004
    ..Additionally, output from SNPSpD includes eigenvalues, principal-component coefficients, and factor "loadings" after varimax rotation, enabling the selection of a subset of SNPs that optimize the information in a genomic region...
  20. ncbi Microsatellite markers reveal a spectrum of population structures in the malaria parasite Plasmodium falciparum
    T J Anderson
    Wellcome Trust Centre for the Epidemiology of Infectious Disease, Department of Zoology, University of Oxford, Oxford, England
    Mol Biol Evol 17:1467-82. 2000
    ..These data reveal a range of population structures within a single pathogen species and suggest intimate links between patterns of epidemiology and genetic structure in this organism...
  21. ncbi Worldwide human relationships inferred from genome-wide patterns of variation
    Jun Z Li
    Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305 5120, USA
    Science 319:1100-4. 2008
    ..This data set allows the most comprehensive characterization to date of human genetic variation...
  22. pmc Allele frequency net: a database and online repository for immune gene frequencies in worldwide populations
    Faviel F Gonzalez-Galarza
    Institute of Infection and Global Health, University of Liverpool, Royal Liverpool and Broadgreen University Hospital, Liverpool, UK
    Nucleic Acids Res 39:D913-9. 2011
    ..Demographic information, frequency data and searching tools can be freely accessed through the website...
  23. ncbi Estimation of effect size distribution from genome-wide association studies and implications for future discoveries
    Ju Hyun Park
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, US Department of Health and Human Services, Rockville, Maryland, USA
    Nat Genet 42:570-5. 2010
    ..However, for BPC cancers, which have modest familial aggregation, our analysis suggests that risk models based on common variants alone will have modest discriminatory power (63.5% area under curve), even with new discoveries...
  24. ncbi A single nucleotide polymorphism in the MDM2 promoter attenuates the p53 tumor suppressor pathway and accelerates tumor formation in humans
    Gareth L Bond
    Cancer Institute of New Jersey, University of Medicine and Dentistry of New Jersey, New Brunswick, NJ 08903, USA
    Cell 119:591-602. 2004
    ..In humans, SNP309 is shown to associate with accelerated tumor formation in both hereditary and sporadic cancers. A model is proposed whereby SNP309 serves as a rate-limiting event in carcinogenesis...
  25. ncbi Genetics in geographically structured populations: defining, estimating and interpreting F(ST)
    Kent E Holsinger
    Department of Ecology and Evolutionary Biology, U 3043, University of Connecticut, Storrs, Connecticut 06269 3043, USA
    Nat Rev Genet 10:639-50. 2009
    ..This Review clarifies how F(ST) is defined, how it should be estimated, how it is related to similar statistics and how estimates of F(ST) should be interpreted...
  26. pmc Genome-wide detection and characterization of positive selection in human populations
    Pardis C Sabeti
    Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02139, USA
    Nature 449:913-8. 2007
    ....
  27. ncbi Identifying adaptive genetic divergence among populations from genome scans
    Mark A Beaumont
    School of Animal and Microbial Sciences, The University of Reading, Whiteknights, PO Box 228, Reading RG6 6AJ, UK
    Mol Ecol 13:969-80. 2004
    ..Neither method could reliably distinguish loci under balancing selection in our simulations, even when the selection coefficient is twenty times the migration rate...
  28. pmc Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways
    Rajan P Nair
    Department of Dermatology, University of Michigan, Ann Arbor, Michigan 48109, USA
    Nat Genet 41:199-204. 2009
    ..Our results expand the catalog of genetic loci implicated in psoriasis susceptibility and suggest priority targets for study in other auto-immune disorders...
  29. pmc Statistical analysis strategies for association studies involving rare variants
    Vikas Bansal
    The Scripps Translational Science Institute, 3344 North Torrey Pines Court, Suite 300, La Jolla, California 92037, USA
    Nat Rev Genet 11:773-85. 2010
    ..Ultimately, although a wide variety of analytical approaches exist, more work is needed to refine them and determine their properties and power in different contexts...
  30. ncbi Sequence variations in PCSK9, low LDL, and protection against coronary heart disease
    Jonathan C Cohen
    Donald W Reynolds Cardiovascular Clinical Research Center, University of Texas Southwestern Medical Center, Dallas, TX 75390 9046, USA
    N Engl J Med 354:1264-72. 2006
    ..We examined the effect of DNA-sequence variations that reduce plasma levels of LDL cholesterol on the incidence of coronary events in a large population...
  31. ncbi Complement factor H variant increases the risk of age-related macular degeneration
    Jonathan L Haines
    Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, TN 37232, USA
    Science 308:419-21. 2005
    ..45 and 5.57. This common variant likely explains approximately 43% of AMD in older adults...
  32. pmc Association of trypanolytic ApoL1 variants with kidney disease in African Americans
    Giulio Genovese
    Division of Nephrology, Department of Medicine, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA 02215, USA
    Science 329:841-5. 2010
    ..We speculate that evolution of a critical survival factor in Africa may have contributed to the high rates of renal disease in African Americans...
  33. ncbi Detecting loci under selection in a hierarchically structured population
    L Excoffier
    Computational and Molecular Population Genetics Lab, Institute of Ecology and Evolution, University of Bern, Bern, Switzerland
    Heredity (Edinb) 103:285-98. 2009
    ..The elimination of false positive loci from genome scans should allow us to better determine on which specific class of genes selection is operating...
  34. ncbi Statistical confidence for likelihood-based paternity inference in natural populations
    T C Marshall
    Institute of Cell, Animal and Population Biology, University of Edinburgh, UK
    Mol Ecol 7:639-55. 1998
    ..CERVUS can be used to calculate allele frequencies, run simulations and perform parentage analysis using data from all types of codominant markers...
  35. pmc Quantification of rare allelic variants from pooled genomic DNA
    Todd E Druley
    Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, USA
    Nat Methods 6:263-5. 2009
    ..Our base-calling algorithm, SNPSeeker, derived from large deviation theory, detected single-nucleotide polymorphisms present at frequencies below the raw error rate of the sequencing platform...
  36. ncbi SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans
    Rebecca L Lamason
    Jake Gittlen Cancer Research Foundation, Department of Pathology, The Pennsylvania State University College of Medicine, Hershey, PA 17033, USA
    Science 310:1782-6. 2005
    ....
  37. pmc Targeted capture and massively parallel sequencing of 12 human exomes
    Sarah B Ng
    Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA
    Nature 461:272-6. 2009
    ..This strategy may be extendable to diseases with more complex genetics through larger sample sizes and appropriate weighting of non-synonymous variants by predicted functional impact...
  38. ncbi Distortion of allele frequency distributions provides a test for recent population bottlenecks
    G Luikart
    Division of Biological Sciences, University of Montana, Missoula 59812, USA
    J Hered 89:238-47. 1998
    ..Computer simulations show that the graphical method is likely (P > .80) to detect an allele frequency distortion after a bottleneck of < or = 20 breeding individuals when 8 to 10 polymorphic microsatellite loci are analyzed...
  39. pmc FASTSNP: an always up-to-date and extendable service for SNP function analysis and prioritization
    Hsiang Yu Yuan
    Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan
    Nucleic Acids Res 34:W635-41. 2006
    ..We have been using FASTSNP for 2 years and FASTSNP enables us to discover a novel promoter polymorphism. FASTSNP is available at http://fastsnp.ibms.sinica.edu.tw...
  40. pmc The next generation of molecular markers from massively parallel sequencing of pooled DNA samples
    Andreas Futschik
    Department of Statistics, University of Vienna, A 1010 Vienna, Austria
    Genetics 186:207-18. 2010
    ..Although our analysis also shows that NGS of pools of individuals will not be preferable under all circumstances, it provides a cost-effective approach to estimate allele frequencies on a genome-wide scale...
  41. pmc A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma
    Christian C Abnet
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA
    Nat Genet 42:764-7. 2010
    ..19 x 10(-15); OR = 1.57), and for those in the noncardia stomach it was absent (P = 0.44; OR = 1.05). Our findings at 10q23 could provide insight into the high incidence of both cancers in China...
  42. pmc Classic selective sweeps were rare in recent human evolution
    Ryan D Hernandez
    Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA
    Science 331:920-4. 2011
    ..These findings indicate that classic sweeps were not a dominant mode of human adaptation over the past ~250,000 years...
  43. pmc Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1
    Wei Zheng
    Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee 37232, USA
    Nat Genet 41:324-8. 2009
    ..01). These results strongly implicate 6q25.1 as a susceptibility locus for breast cancer...
  44. pmc Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies
    Brendan J Keating
    The Institute for Translational Medicine and Therapeutics, School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvannia, USA
    PLoS ONE 3:e3583. 2008
    ..These datasets will also facilitate more robust secondary analyses, such as explorations with alternative genetic models, epistasis and gene-environment interactions...
  45. pmc Calibrating a coalescent simulation of human genome sequence variation
    Stephen F Schaffner
    Program in Medical and Population Genetics, The Broad Institute, Cambridge, Massachusetts 02139, USA
    Genome Res 15:1576-83. 2005
    ..We anticipate that this model, for which software is publicly available, and others like it will have numerous applications in empirical studies of human genetics...
  46. pmc Genetic determinants of lipid traits in diverse populations from the population architecture using genomics and epidemiology (PAGE) study
    Logan Dumitrescu
    Center for Human Genetics Research, Vanderbilt University, Nashville, Tennessee, United States of America
    PLoS Genet 7:e1002138. 2011
    ..For the associations that did not generalize, differences in effect sizes, allele frequencies, and linkage disequilibrium offer clues to the next generation of association studies for these traits...
  47. ncbi Interleukin-1 polymorphisms associated with increased risk of gastric cancer
    E M El-Omar
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA
    Nature 404:398-402. 2000
    ..Host genetic factors that affect interleukin-1-beta may determine why some individuals infected with H. pylori develop gastric cancer while others do not...
  48. pmc Hardy-Weinberg equilibrium testing of biological ascertainment for Mendelian randomization studies
    Santiago Rodriguez
    Bristol Genetic Epidemiology Laboratories and MRC Centre for Causal Analyses in Translational Epidemiology, Department of Social Medicine, University of Bristol, Bristol, United Kingdom
    Am J Epidemiol 169:505-14. 2009
    ..The authors also present a Web program (http://www.oege.org/software/hwe-mr-calc.shtml) for estimating possible missingness and an approach to evaluating missingness under different genetic models...
  49. ncbi Epistasis: too often neglected in complex trait studies?
    Orjan Carlborg
    Linnaeus Centre for Bioinformatics, Uppsala University, BMC, Box 598, SE 751 24 Uppsala, Sweden
    Nat Rev Genet 5:618-25. 2004
  50. ncbi Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease
    J P Hugot
    Fondation Jean Dausset CEPH, 27 rue J Dodu 75010 Paris, France
    Nature 411:599-603. 2001
    ....
  51. ncbi Biological and biomedical implications of the co-evolution of pathogens and their hosts
    Mark E J Woolhouse
    Centre for Infectious Diseases, College of Medicine and Veterinary Medicine, University of Edinburgh, Easter Bush, Roslin, Midlothian EH25 9RG, UK
    Nat Genet 32:569-77. 2002
    ....
  52. ncbi Sequence variants at the TERT-CLPTM1L locus associate with many cancer types
    Thorunn Rafnar
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nat Genet 41:221-7. 2009
    ..However, neither variant could fully account for the association of the other. rs2736098 corresponds to A305A in the telomerase reverse transcriptase (TERT) protein and rs401681 is in an intron of the CLPTM1L gene...
  53. pmc Differential confounding of rare and common variants in spatially structured populations
    Iain Mathieson
    Wellcome Trust Centre for Human Genetics, University of Oxford, UK
    Nat Genet 44:243-6. 2012
    ..These results underscore the importance of collecting and integrating spatial information in the genetic analysis of complex traits...
  54. pmc Ancestry informative marker sets for determining continental origin and admixture proportions in common populations in America
    Roman Kosoy
    Rowe Program in Human Genetics, Department of Biochemistry, University of California Davis, Davis, California 95616, USA
    Hum Mutat 30:69-78. 2009
    ..We conclude that investigators can use TaqMan assays for the selected AIMs as a simple and cost efficient tool to control for differences in continental ancestry when conducting association studies in ethnically diverse populations...
  55. pmc Pooled association tests for rare variants in exon-resequencing studies
    Alkes L Price
    Department of Epidemiology, Harvard School of Public Health, Boston, MA 02115, USA
    Am J Hum Genet 86:832-8. 2010
    ..We used a rigorous population-genetics simulation framework to evaluate the power of the method, and we applied the method to empirical sequencing data from three disease studies...
  56. pmc Demographic history and rare allele sharing among human populations
    Simon Gravel
    Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305 5120, USA
    Proc Natl Acad Sci U S A 108:11983-8. 2011
    ..Our results emphasize that replication of disease association for specific rare genetic variants across diverged populations must overcome both reduced statistical power because of rarity and higher population divergence...
  57. ncbi Complement factor H polymorphism and age-related macular degeneration
    Albert O Edwards
    Department of Ophthalmology and McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center UTSWMC, 5323 Harry Hines Boulevard, Dallas, TX 75390, USA
    Science 308:421-4. 2005
    ..Possession of at least one histidine at amino acid position 402 increased the risk of AMD 2.7-fold and may account for 50% of the attributable risk of AMD...
  58. ncbi Newly identified loci that influence lipid concentrations and risk of coronary artery disease
    Cristen J Willer
    Center for Statistical Genetics, Department of Biostatistics, University of Michigan, 1420 Washington Heights, Ann Arbor, Michigan 48109, USA
    Nat Genet 40:161-9. 2008
    ..Notably, the 11 independent variants associated with increased LDL cholesterol concentrations in our study also showed increased frequency in a sample of coronary artery disease cases versus controls...
  59. ncbi Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants
    Yingrui Li
    BGI Shenzhen, Shenzhen, China
    Nat Genet 42:969-72. 2010
    ..This excess was more pronounced for X-linked SNPs, suggesting that deleterious substitutions are primarily recessive...
  60. pmc The genomic ancestry of individuals from different geographical regions of Brazil is more uniform than expected
    Sergio D J Pena
    Departamento de Bioquimica e Imunologia, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil
    PLoS ONE 6:e17063. 2011
    ..These findings, of both clinical and sociological importance for Brazil, should also be relevant to other countries with ancestrally admixed populations...
  61. pmc Revealing the genetic structure of a trait by sequencing a population under selection
    Leopold Parts
    The Wellcome Trust Sanger Institute, Hinxton, United Kingdom
    Genome Res 21:1131-8. 2011
    ....
  62. ncbi The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm
    Anna Helgadottir
    deCODE Genetics, Sturlugata 8, IS 101 Reykjavik, Iceland
    Nat Genet 40:217-24. 2008
    ..These findings extend our insight into the role of the sequence variant tagged by rs10757278-G and show that it is not confined to atherosclerotic diseases...
  63. ncbi Genetic structure of human populations
    Noah A Rosenberg
    Molecular and Computational Biology, 1042 West 36th Place DRB 289, University of Southern California, Los Angeles, CA 90089, USA
    Science 298:2381-5. 2002
    ..General agreement of genetic and predefined populations suggests that self-reported ancestry can facilitate assessments of epidemiological risks but does not obviate the need to use genetic information in genetic association studies...
  64. pmc Estimation of pairwise relatedness with molecular markers
    M Lynch
    Department of Biology, University of Oregon, Eugene, Oregon 97403
    Genetics 152:1753-66. 1999
    ..Two examples are given in which the new estimators are applied to natural populations, one that reveals isolation-by-distance in an annual plant and the other that suggests a genetic basis for a coat color polymorphism in bears...
  65. pmc Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes
    Sergey Nejentsev
    Juvenile Diabetes Research Foundation Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, CB2 0XY, UK
    Science 324:387-9. 2009
    ..This finding firmly establishes the role of IFIH1 in T1D and demonstrates that resequencing studies can pinpoint disease-causing genes in genomic regions initially identified by GWASs...
  66. ncbi A functional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritis
    Yoshinari Miyamoto
    Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, 4 6 1, Shirokanedai, Minato ku, Tokyo 108 8639, Japan
    Nat Genet 39:529-33. 2007
    ..Our findings implicate GDF5 as a susceptibility gene for osteoarthritis and suggest that decreased GDF5 expression is involved in the pathogenesis of osteoarthritis...
  67. ncbi A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease
    Y Ogura
    Department of Pathology and Comprehensive Cancer Center, The University of Michigan Medical School, Ann Arbor, Michigan 48109, USA
    Nature 411:603-6. 2001
    ..These results implicate NOD2 in susceptibility to Crohn's disease, and suggest a link between an innate immune response to bacterial components and development of disease...
  68. ncbi Genome-wide haplotype association study identifies the SLC22A3-LPAL2-LPA gene cluster as a risk locus for coronary artery disease
    David Alexandre Tregouet
    Institut National de la Santé Et de la Recherche Médicale INSERM Unité Mixte de Recherche UMR_S 525, Université Pierre et Marie Curie UPMC Paris 06, Paris 75013, France
    Nat Genet 41:283-5. 2009
    ..This locus was not identified from previous genome-wide association (GWA) studies focused on univariate analyses of SNPs. The proposed approach may have wide utility for analyzing GWA data for other complex traits...
  69. ncbi Genome-wide analysis of a long-term evolution experiment with Drosophila
    Molly K Burke
    Ecology and Evolutionary Biology, University of California, Irvine, 321 Steinhaus Hall, Irvine, California 92697 2525, USA
    Nature 467:587-90. 2010
    ....
  70. pmc Dissection of genetically complex traits with extremely large pools of yeast segregants
    Ian M Ehrenreich
    Lewis Sigler Institute for Integrative Genomics, Princeton University, Princeton, New Jersey 08540, USA
    Nature 464:1039-42. 2010
    ..Our method should have broad applications in yeast and can be extended to other organisms...
  71. ncbi Mining transcriptome sequences towards identifying adaptive single nucleotide polymorphisms in lake whitefish species pairs (Coregonus spp. Salmonidae)
    Sébastien Renaut
    Institut de Biologie Intégrative et des Systèmes, Universite Laval, QC, Canada
    Mol Ecol 19:115-31. 2010
    ..This indicates an elevated activity of transposable elements, which could potentially contribute to the reduced fitness of hybrids previously documented...
  72. pmc Serotonin transporter promoter gain-of-function genotypes are linked to obsessive-compulsive disorder
    Xian Zhang Hu
    Laboratory of Neurogenetics, National Institute on Alcohol Abuse and Alcoholism, Rockville, MD 20852, USA
    Am J Hum Genet 78:815-26. 2006
    ..The L(A) allele was twofold overtransmitted to the patients with OCD. The HTTLPR L(A)L(A) genotype exerts a moderate (1.8-fold) effect on risk of OCD, which crystallizes the evidence that the HTT gene has a role in OCD...
  73. pmc Multifactor-dimensionality reduction reveals high-order interactions among estrogen-metabolism genes in sporadic breast cancer
    M D Ritchie
    Program in Human Genetics, Department of Molecular Physiology and Biophysics, Vanderbilt University Medical School, Nashville, TN 37232, USA
    Am J Hum Genet 69:138-47. 2001
    ..To our knowledge, this is the first report of a four-locus interaction associated with a common complex multifactorial disease...
  74. pmc Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians
    Norihiro Kato
    Department of Gene Diagnostics and Therapeutics, Research Institute, National Center for Global Health and Medicine, Tokyo, Japan
    Nat Genet 43:531-8. 2011
    ..9 × 10(-31) and P = 1.3 × 10(-35) for SBP and DBP, respectively) with ethnic specificity. These findings provide new insights into blood pressure regulation and potential targets for intervention...
  75. pmc Adaptations to climate-mediated selective pressures in humans
    Angela M Hancock
    Department of Human Genetics, University of Chicago, Chicago, Illinois, United States of America
    PLoS Genet 7:e1001375. 2011
    ..Further, we find an enrichment of strong signals in gene sets related to UV radiation, infection and immunity, and cancer. Our results imply that adaptations to climate shaped the spatial distribution of variation in humans...
  76. ncbi A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity
    I Weisberg
    Department of Human Genetics, McGill University Health Centre, Montreal, Quebec, H3Z 2Z3, Canada
    Mol Genet Metab 64:169-72. 1998
    ..A silent genetic variant, T1317C, was identified in the same exon. It was relatively infrequent (allele frequency 5%) in our study group, but was quite common in a small sample of African individuals (allele frequency 39%)...
  77. pmc CARD15/NOD2 mutational analysis and genotype-phenotype correlation in 612 patients with inflammatory bowel disease
    Suzanne Lesage
    Fondation Jean Dausset CEPH, 27 rue Juliette Dodu, 75010 Paris, France
    Am J Hum Genet 70:845-57. 2002
    ..These findings provide tools for a DNA-based test of susceptibility and for genetic counseling in inflammatory bowel disease...
  78. pmc Common vs. rare allele hypotheses for complex diseases
    Nicholas J Schork
    Scripps Genomic Medicine, and Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, United States
    Curr Opin Genet Dev 19:212-9. 2009
    ..Both hypotheses have their place in current research efforts...
  79. ncbi SNP discovery and allele frequency estimation by deep sequencing of reduced representation libraries
    Curtis P van Tassell
    Bovine Functional Genomics Laboratory, United States Department of Agriculture, Agricultural Research Service, 10300 Baltimore Avenue, Beltsville, Maryland 20705, USA
    Nat Methods 5:247-52. 2008
    ..67. This approach for simultaneous de novo discovery of high-quality SNPs and population characterization of allele frequencies may be applied to any species with at least a partially sequenced genome...
  80. pmc Genetic variation and population structure in native Americans
    Sijia Wang
    The Galton Laboratory, Department of Biology, University College London, London, United Kingdom
    PLoS Genet 3:e185. 2007
    ..These findings offer new insights into the process of population dispersal and differentiation during the peopling of the Americas...
  81. pmc First evidence of high knockdown resistance frequency in Anopheles arabiensis (Diptera: Culicidae) from Ethiopia
    Delenasaw Yewhalaw
    Department of Biology, Jimma University, Jimma, Ethiopia
    Am J Trop Med Hyg 83:122-5. 2010
    ..05% deltamethrin from bioassay results was 1.0%, 18.1%, and 82.2%, respectively. We report here the highest kdr allele frequency ever observed in An. arabiensis and its implications in malaria vector control in Ethiopia are discussed...
  82. pmc Distribution of knock-down resistance mutations in Anopheles gambiae molecular forms in west and west-central Africa
    Federica Santolamazza
    Istituto Pasteur Fondazione Cenci Bolognetti, Universita La Sapienza, Rome, Italy
    Malar J 7:74. 2008
    ..In M-form populations surveyed to date, only the L1014F mutation has been found, although less widespread and at lower frequencies than in sympatric S-form populations...
  83. doi Genetic variation in PSCA is associated with susceptibility to diffuse-type gastric cancer
    Hiromi Sakamoto
    Nat Genet 40:730-40. 2008
    ..90, 95% CI = 1.56-2.33, P = 8.01 x 10(-11)). The polymorphism of the PSCA gene, which is possibly involved in regulating gastric epithelial-cell proliferation, influences susceptibility to diffuse-type gastric cancer...
  84. pmc Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer
    Ian P M Tomlinson
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    PLoS Genet 7:e1002105. 2011
    ....
  85. pmc GAB2 alleles modify Alzheimer's risk in APOE epsilon4 carriers
    Eric M Reiman
    Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, 85004, USA
    Neuron 54:713-20. 2007
    ..Our findings suggest that GAB2 modifies LOAD risk in APOE epsilon4 carriers and influences Alzheimer's neuropathology...
  86. ncbi Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes
    Struan F A Grant
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Nat Genet 38:320-3. 2006
    ..It is thought to act through regulation of proglucagon gene expression in enteroendocrine cells via the Wnt signaling pathway...
  87. pmc Genetic structure of Europeans: a view from the North-East
    Mari Nelis
    Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia
    PLoS ONE 4:e5472. 2009
    ..Together with previously published data, our results allow the creation of a comprehensive European genetic map that will greatly facilitate inter-population genetic studies including genome wide association studies (GWAS)...
  88. ncbi Positive natural selection in the human lineage
    P C Sabeti
    Broad Institute of MIT and Harvard, Cambridge, MA, USA
    Science 312:1614-20. 2006
    ....
  89. pmc Aberrant allele frequencies of the SNPs located in microRNA target sites are potentially associated with human cancers
    Zhenbao Yu
    Health Sector, Biotechnology Research Institute, National Research Council of Canada, 6100 Royalmount Avenue, Montreal, Quebec, Canada
    Nucleic Acids Res 35:4535-41. 2007
    ..Hence, SNPs located in miRNA-binding sites affect miRNA target expression and function, and are potentially associated with cancers...
  90. pmc Genomewide SNP variation reveals relationships among landraces and modern varieties of rice
    Kenneth L McNally
    International Rice Research Institute, DAPO Box 7777, Metro Manila 1301, The Philippines
    Proc Natl Acad Sci U S A 106:12273-8. 2009
    ..These comprehensive SNP data provide a foundation for deep exploration of rice diversity and gene-trait relationships and their use for future rice improvement...
  91. ncbi Inferring ancestral origin using a single multiplex assay of ancestry-informative marker SNPs
    C Phillips
    Forensic Genetics Department, University of Santiago de Compostela, 15782, and Centro Nacional de Genotipado CeGen, Hospital Clinico Universitario, 15706 Galicia, Spain
    Forensic Sci Int Genet 1:273-80. 2007
    ..This study shows that by choosing SNPs exhibiting marked allele frequency differences between population-groups a practical forensic test for assigning the most likely ancestry can be achieved from a single multiplexed assay...
  92. ncbi The effects of genetic polymorphisms of IL-6, IL-8, and IL-10 on Helicobacter pylori-induced gastroduodenal diseases in Korea
    Jung Mook Kang
    Department of Internal Medicine and Liver Research Institute, Seoul National University College of Medicine, Seoul, Korea
    J Clin Gastroenterol 43:420-8. 2009
    ..The present study was performed to evaluate whether or not the genetic polymorphisms of IL-6, IL-8, and IL-10 are associated with gastroduodenal disease in the Korean population...
  93. pmc Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background
    Gavin Hudson
    Mitochondrial Research Group, Department of Ophthalmology and Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK
    Am J Hum Genet 81:228-33. 2007
    ..Substitutions on MTCYB provide an explanation for these findings, which demonstrate that common genetic variants have a marked effect on the expression of an ostensibly monogenic mtDNA disorder...
  94. pmc The role of geography in human adaptation
    Graham Coop
    Department of Human Genetics, University of Chicago, Chicago, IL, USA
    PLoS Genet 5:e1000500. 2009
    ..These patterns suggest that selection is often weak enough that neutral processes -- especially population history, migration, and drift -- exert powerful influences over the fate and geographic distribution of selected alleles...
  95. ncbi Deep sequencing to reveal new variants in pooled DNA samples
    Astrid A Out
    Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Hum Mutat 30:1703-12. 2009
    ..We describe custom bioinformatics and statistics to optimize detection of rare variants and to estimate required sequencing depth. Our results provide directions for designing high-throughput analyses of candidate genes...
  96. ncbi Prediction of deleterious human alleles
    S Sunyaev
    European Molecular Biology Laboratory, Meyerhofstrasse 1, D-69117 Heidelberg, Germany
    Hum Mol Genet 10:591-7. 2001
    ..The average human genotype carries approximately 10(3) damaging non-synonymous SNPs that together cause a substantial reduction in fitness...
  97. ncbi Common sequence polymorphisms shaping genetic diversity in Arabidopsis thaliana
    Richard M Clark
    Department of Molecular Biology, Max Planck Institute for Developmental Biology, 72076 Tubingen, Germany
    Science 317:338-42. 2007
    ..Analyzing the polymorphisms we describe in larger sets of accessions will enable a detailed understanding of forces shaping population-wide sequence variation in A. thaliana...
  98. pmc Localization of type 1 diabetes susceptibility to the MHC class I genes HLA-B and HLA-A
    Sergey Nejentsev
    Juvenile Diabetes Research Foundation Wellcome Trust Diabetes and Inflammation Laboratory, Department of Medical Genetics, Cambridge Institute of Medical Research, University of Cambridge, CB2 0XY, UK
    Nature 450:887-92. 2007
    ..Taken together with previous studies, we conclude that MHC-class-I-mediated events, principally involving HLA-B*39, contribute to the aetiology of type 1 diabetes...
  99. ncbi Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population
    Ryo Takata
    Laboratory for Biomarker Development, Center of Genomic Medicine, RIKEN, Tokyo, Japan
    Nat Genet 42:751-4. 2010
    ..6 x 10(-8)). These findings advance our understanding of the genetic basis of prostate carcinogenesis and also highlight the genetic heterogeneity of prostate cancer susceptibility among different ethnic populations...
  100. pmc Japanese population structure, based on SNP genotypes from 7003 individuals compared to other ethnic groups: effects on population-based association studies
    Yumi Yamaguchi-Kabata
    Laboratory for Statistical Analysis, Center for Genomic Medicine, The Institute of Physical and Chemical Research RIKEN, 4 6 1 Shirokane dai, Minato ku, Tokyo 108 8639, Japan
    Am J Hum Genet 83:445-56. 2008
    ..Simulation studies showed that the inclusion of different proportions of individuals from different regions of Japan in case and control groups can lead to an inflated rate of false-positive results when the sample sizes are large...
  101. pmc Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease
    Minerva M Carrasquillo
    Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida 32224, USA
    Nat Genet 41:192-8. 2009
    ..0 x 10(-7)) and 1.26 (95% CI = 1.05-1.51) for female heterozygotes (P = 0.01) compared to female noncarriers. For male hemizygotes (P = 0.07) compared to male noncarriers, the odds ratio was 1.18 (95% CI = 0.99-1.41)...

Research Grants62

  1. Role of Periostin in Polycystic Kidney Disease
    Darren P Wallace; Fiscal Year: 2013
    ..PUBLIC HEALTH RELEVANCE: ADPKD is the most frequently inherited kidney disorder with a gene frequency of 1 in 500 to 1,000 births and accounts for approximately 5-9% of all end-stage renal diseases...
  2. GnRH Receptor Signaling Specificity
    Stuart C Sealfon; Fiscal Year: 2013
    ..3. Develop and experimentally validate a model for gonadotropin gene frequency control...
  3. Examining Circadian Changes in Genome Structure
    William J Belden; Fiscal Year: 2013
    ..In this proposal, I am seeking to further define the modifications that occur at the Neurospora central clock gene frequency and examine the role of heterochromatin in clock and clock-controlled gene expression...
  4. GENETIC PREDISPOSITION TESTING IN COLORECTAL CANCER
    Deborah Schrag; Fiscal Year: 2003
    ..By evaluating gene frequency and penetrance, this analysis will assess the extent to which inherited I1307K APC mutations increase cancer ..
  5. Effects of Formyl Peptide Receptor variants on function
    John Mills; Fiscal Year: 2005
    ..The sequence of FPR is highly polymorphic in the human population with no haplotype above 30% in gene frequency. Evaluations of patients with aggressive periodontitis have indicated that their neutrophils demonstrated poor ..
  6. GENETIC DIFFERENTIATION IN AEDES ALBOPICIUS SUBGROUP
    KARAMJIT RAI; Fiscal Year: 1991
    ..S. over the five year period will provide insight into the dynamics of gene frequency changes that accompany colonization by Ae. albopictus...
  7. EVOLUTIONARY DYNAMICS OF GENE-FOR-GENE SYSTEMS
    Joy Bergelson; Fiscal Year: 2004
    ..emphasize how epidemiological processes of infection frequency and spread of disease influence aspects of gene frequency and molecular evolution...
  8. THERAPY FOR ALPHA-1 ANTITRYPSIN DEFECIENCY
    GORDON SNIDER; Fiscal Year: 1999
    ..AATD is a rare disorder with an estimated gene frequency in Americans of Northern European origin comparable to that of cystic fibrosis occurring in the range of 1 in ..
  9. Interoperation of Genome Databases and Tools
    Kei Hoi Cheung; Fiscal Year: 2005
    ..TRIPLES that manages data for large-scale yeast genome analysis (with Prof Snyder) and 2) ALFRED that stores gene frequency data on different human populations (with Prof Kidd)...
  10. SPATIAL ANALYSIS OF HUMAN VARIATION
    ROBERT SOKAL; Fiscal Year: 1991
    ..Significance tests for the difference between two correlogram will be explored. Inferences from gene frequency surfaces to processes will be investigated by means of analysis of regression residuals and by studies of ..
  11. Non invasive Monitoring of NPC C Progression and Therapy
    Robert Gillies; Fiscal Year: 2001
    ..Niemann-Pick type C disease (NP-C) is an inheritable defect in intracellular cholesterol trafficking with a gene frequency of 1:200...
  12. A Mouse Model of Gaucher Disease
    Ernest Beutler; Fiscal Year: 2005
    ..In particular, electron microscopy and light microscopy will be used to attempt to demonstrate the development of Gaucher cells in the chimeric mice. ..
  13. FORMATION AND SURVIVAL OF RED BLOOD CELLS
    Ernest Beutler; Fiscal Year: 2001
    ..Should these point mutations fail to alter gene transcription, a search will be made for other potential mutations in linkage disequilibrium with the known -5,-8 and -24 polymorphisms, by sequencing upstream through the promotor. ..
  14. Human Laboratory Model of Cocaine Treatment: Behavioral Economic Analysis
    Mark K Greenwald; Fiscal Year: 2010
    ....
  15. Oxidant Stress and Antioxidants during HIV Therapy
    Todd Hulgan; Fiscal Year: 2007
    ..The candidate's long-term goal is to develop into an independent clinical investigator in this field of study. ..
  16. Quantitative methods for genetic linkage heterogeneity
    Daniel Schaid; Fiscal Year: 2008
    ..Aim 3. User-friendly software: User-friendly software that implements the proposed methods, including well-documented procedures and examples of their usage, will be provided free to the scientific community. ..
  17. Pharmacogenetics of the Antidepressant Response in Geriatric Major Depression
    Greer M Murphy; Fiscal Year: 2010
    ..Many patients are resistant to antidepressant medication treatment. A method for identifying patients likely to benefit from antidepressant treatment would decrease patient distress and save health care dollars. ..
  18. Genetic Determinants of C-Reactive Protein
    JACQUELINE DANIK; Fiscal Year: 2008
    ..At the end of the proposed research program, Dr. Suk will have attained advanced skills in genetics and epidemiology which can then be applied to independent research in genetic epidemiology and cardiovascular disease. ..
  19. Genomic Approaches to Improve Transfusion Therapy in SCD Patients
    Marion E Reid; Fiscal Year: 2010
    ..We believe that data generated from this project will have an immediate impact in improving the transfusion of patients with SCD. (End of Abstract) ..
  20. New Methods of Studying Aging, Health and Longevity: Combining Longitudinal Data
    ANATOLIY I YASHIN; Fiscal Year: 2010
    ....
  21. DYNAMIC DETERMINANTS OF EXCEPTIONAL HEALTH AT LATE AGES
    ANATOLIY YASHIN; Fiscal Year: 2009
    ..Evaluate contribution of genetic and non-genetic factors in exceptional health at late ages in the joint analysis of FHS and FHSO data. ..
  22. Approaches to Multiorganismal Comparative Proteomics
    Shamil Sunyaev; Fiscal Year: 2009
    ....
  23. IDENTIFICATION AND EXPRESSION OF SKIN SPECIFIC GENES
    Peter Byers; Fiscal Year: 2002
    ....
  24. Breast Cancer After The Women?s Health Initiative Study: Declining Incidence?
    Nancy Krieger; Fiscal Year: 2008
    ..The knowledge gained will lead to new insights about the causes of breast cancer and ways its incidence can be reduced. [unreadable] [unreadable] [unreadable]..
  25. The Challenges of Autosomal Recessive and Other New Forms of OI
    Peter Byers; Fiscal Year: 2008
    ..It also will facilitate identification of new OI genes, identify new paths of research to benefit patients, and increase progress of the Linked Clinical Research Centers. [unreadable] [unreadable] [unreadable] [unreadable]..
  26. Effects of oral clefts on birth outcomes and cleft risks due to maternal smoking
    GEORGE WEHBY; Fiscal Year: 2008
    ..Another aim is to obtain consistent estimates of the effect of maternal smoking or cleft lip and palate risk. The proposed model can be applied to study other newborn disorders. [unreadable] [unreadable] [unreadable]..
  27. Gordon Research Conferences: Collagen 2003, 2005, 2007
    Peter Byers; Fiscal Year: 2003
    ..The funds will be used to partially defray conferee travel expenses and registration fees for invited speakers and for young members of the research community. ..
  28. Reducing Cocaine/Heroin Abuse with SR-Amphetamine and Buprenorphine
    Mark Greenwald; Fiscal Year: 2009
    ..The innovative aims, rigorous methods and clinical/public health significance of this project (i.e. whether SR-AMP has potential efficacy for reducing cocaine use) is highly concordant with this RFA. ..
  29. Simulation algorithms for genome-wide data and application to admixed data
    Jeffrey Wall; Fiscal Year: 2009
    ..This work will also help us determine the marker density and sample size needed for future association studies. ..
  30. Genetic Determinants of Brain Structure and Disease Risk in Schizophrenia
    Thomas H Wassink; Fiscal Year: 2010
    ....
  31. Racial Discrimination and Risk of Chronic Disease
    Nancy Krieger; Fiscal Year: 2010
    ....
  32. QUANTITATIVE ASSOCIATION METHODS FOR GENE MAPPING
    Daniel Schaid; Fiscal Year: 2001
    ..The advantages of this proposed research, over those currently used to identify and characterize genes of complex diseases, are that it will offer a more powerful and flexible method to find these types of genes. ..
  33. GENETIC AND BIOLOGIC STUDIES OF 1P AND 19Q IN GLIOMAS
    Robert Jenkins; Fiscal Year: 2001
    ..abstract_text> ..
  34. IDENTIFYING NIDDM GENES USING ADMIXED POPULATIONS
    Mark Shriver; Fiscal Year: 2001
    ..They will verify any positive associations found using sib-pair linkage analysis and the transmission disequilibrium test. ..
  35. NEURODEVELOPMENTAL INSULTS AND SCHIZOPHRENIA
    RUSSELL POLAND; Fiscal Year: 2001
    ..The results of the proposed studies should provide basic information on potential links between the neurodevelopmental abnormalities and anomalies in adult neurochemistry defined by 1H MRS in schizophrenia. ..
  36. Robust Generalization in MHC Peptide Binding Models
    Pedro Cano; Fiscal Year: 2002
    ....
  37. VARIABLE SELECTION IN GENETIC EPIDEMIOLOGICAL STUDIES OF CARDIOVASCULAR DISEASES
    C Charles Gu; Fiscal Year: 2010
    ..The results, together with the computer programs and ancillary databases will make a significant contribution to many ongoing and new genetic epidemiological studies of CVD and related diseases. ..
  38. New Research Strategies in Osteogenesis Imperfecta
    Peter Byers; Fiscal Year: 2006
    ..unreadable] [unreadable] [unreadable] [unreadable]..
  39. Natriuretic mechanisms of AT2 receptors
    ROBERT MUNSON CAREY; Fiscal Year: 2010
    ..This application will increase our understanding of the mechanisms whereby the kidney renin-angiotensin system regulates salt and water excretion, suggesting new molecular targets for the treatment and prevention of hypertension. ..
  40. Mitochondrial Genomics and Peripheral Neuropathy during HIV Therapy
    Todd Hulgan; Fiscal Year: 2008
    ..Results from this study will also advance the field of "mitochondrial medicine", having broad application across other scientific disciplines and for other human diseases. [unreadable] [unreadable] [unreadable]..
  41. LINKAGE DISEQUILIBRIUM AND HUMAN GENETIC STUDIES
    Kenneth Kidd; Fiscal Year: 2008
    ..The data will be made publicly available through ALFRED, an existing Web-accessible database. ..
  42. Insulin Resistance and Colon Cancer in Blacks and Whites
    Temitope Keku; Fiscal Year: 2005
    ..The proposed project will advance the understanding of the role of insulin resistance in colon cancer among African Americans and whites. ..
  43. QUANTITATIVE TRAIT LOCI RELATED TO DROSOPHILA SPECIATION
    Sergey Nuzhdin; Fiscal Year: 2004
    ..This comprehensive assessment of the genetics of several traits will further our understanding of the genetics of speciation. ..
  44. Ethnic Variations in Antidepressant Response
    RUSSELL POLAND; Fiscal Year: 2005
    ....
  45. A MULTI-FACETED SEARCH FOR AUTISM DISEASE GENES
    Thomas Wassink; Fiscal Year: 2004
    ..Taken together, the training plan and research proposal provide for a breadth of training, the potential for meaningful discovery, and support for the establishment of an independent research career. ..
  46. ROBUST LINKAGE METHODS FOR HUMAN PEDIGREE DATA
    Katrina Goddard; Fiscal Year: 2004
    ..At the end of the project period, a comprehensive set of tools for model-free affected relative pair analysis will be available. ..
  47. Mild Ol - Toward Better Understanding and Treatment
    Peter Byers; Fiscal Year: 2004
    ..abstract_text> ..
  48. EPIDEMIOLOGY OF INSOMNIA & MENTAL ILLNESS IN ADOLESCENCE
    Eric Johnson; Fiscal Year: 2004
    ....
  49. CONSTRUCTION AND APPLICATION OF A US ADMIXTURE MAP
    Mark Shriver; Fiscal Year: 2006
    ..From simulation studies, we estimate that about 1000 AIMs will be required for genome-wide mapping with two-way admixture, and about 1500 for admixture between three populations. [unreadable] [unreadable] [unreadable]..
  50. 14th Internatinal Symposium on Inherited Diseases
    David Whitcomb; Fiscal Year: 2004
    ..The format, venue, and content are designed to maximize participation, education, translation and implementation of the key elements of the many new findings in the genetics of the pancreas. ..
  51. Gene Interactions, Estrogen, and Risk of Breast Cancer
    Kathleen Egan; Fiscal Year: 2006
    ..abstract_text> ..
  52. MOLECULAR GENETICS OF HEREDITARY PANCREATITIS
    David Whitcomb; Fiscal Year: 2008
    ..The HP and familial pancreatitis studies are especially important because of the statistical power of family studies and the ability to detect modifier genes in a uniform background of susceptibility factors. ..
  53. EFFLUX-MEDIATED RESISTANCE TO TETRACYCLINES
    Stuart Levy; Fiscal Year: 2004
    ....
  54. Funtional Proteomics and Response to Preoperative Theraphy in Breast Cancer
    Ana Gonzalez Angulo; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  55. Race & Breast Cancer Estrogen Receptor Status: Impact of Class and Missing Data
    Nancy Krieger; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable] [unreadable] [unreadable]..
  56. METHYLPHENIDATE TREATMENT OF ADHD IN CHILDREN WITH TS
    Kenneth Gadow; Fiscal Year: 2004
    ..To evaluate the impact of tic severity and comorbid internalizing and externalizing symptoms on clinical outcome, children with ADHD/+tics will be compared with an additional sample of children with ADHD/-tics at ages 11 and 16 years. ..
  57. Serum Vitamin D and Mortality from Eye Melanoma
    Kathleen Egan; Fiscal Year: 2007
    ..If the proposed hypotheses are supported, findings may offer novel insights, and point to new strategies for cancer control. [unreadable] [unreadable] [unreadable]..
  58. Microglial Neuroprotection and Neurotoxicity
    Greer Murphy; Fiscal Year: 2007
    ..Although microglial neurotoxicity undoubtedly occurs in many disease states, it is important to understand how microglia might be induced to clear abnormal proteins from the brain or provide neuroprotection. ..
  59. Genome-Wide Screens for Autism Susceptibility Loci
    Dan Arking; Fiscal Year: 2004
    ..These techniques should prove particularly robust for susceptibility gene identification, as they are not hindered by the current limited understanding of both gene function and regulation. ..