Genomes and Genes
M J Daly
Affiliation: Massachusetts Institute of Technology
- High-resolution haplotype structure in the human genomeM J Daly
Whitehead Institute Massachusetts Institute of Technology, Center for Genome Research, Cambridge, Massachusetts, USA
Nat Genet 29:229-32. 2001..If our observed structure is general (and published data suggest that it may be), it offers a coherent framework for creating a haplotype map of the human genome...
- Genetic investigation of chromosome 5q GABAA receptor subunit genes in schizophreniaT L Petryshen
Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA, USA
Mol Psychiatry 10:1074-88, 1057. 2005..Taken together, these results support the involvement of the chromosome 5q GABAA receptor gene cluster in schizophrenia, and suggest that schizophrenia-associated haplotypes may alter expression of GABA-related genes...
- Familial eosinophilia maps to the cytokine gene cluster on human chromosomal region 5q31-q33J D Rioux
Whitehead Institute MIT Center for Genome Research, Cambridge, MA, USA
Am J Hum Genet 63:1086-94. 1998....
- Genomewide search in Canadian families with inflammatory bowel disease reveals two novel susceptibility lociJ D Rioux
Whitehead Institute Massachusetts Institute of Technology, Center for Genome Research, Cambridge, MA 02139, USA
Am J Hum Genet 66:1863-70. 2000..Both of these genomic regions contain numerous genes that are important to the immune and inflammatory systems and that provide good targets for future candidate-gene studies...
- Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn diseaseJ D Rioux
Whitehead Institute/Massachusetts Institute of Technology, Center for Genome Research, Cambridge, Massachusetts, USA
Nat Genet 29:223-8. 2001..These results have important implications for Crohn disease in particular and LD mapping in general...
- Support for involvement of neuregulin 1 in schizophrenia pathophysiologyT L Petryshen
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
Mol Psychiatry 10:366-74, 328. 2005..In summary, our results suggest that haplotypes across NRG1 and multiple NRG1 variants are involved in schizophrenia...
- Serrate2 is disrupted in the mouse limb-development mutant syndactylismA Sidow
Whitehead Institute for Biomedical Research, Cambridge, Massachusetts 02142, USA
Nature 389:722-5. 1997..In addition to cloning the sm gene, we have mapped three modifiers of sm, for which we suggest possible candidate genes...
- The vibrator mutation causes neurodegeneration via reduced expression of PITP alpha: positional complementation cloning and extragenic suppressionB A Hamilton
Whitehead Institute for Biomedical Research, Cambridge, Massachusetts 02142, USA
Neuron 18:711-22. 1997..The vibrator phenotype is suppressed in one intercross. We performed a complete genome scan and mapped a major suppressor locus (Mvb-1) to proximal chromosome 19...
- Parametric and nonparametric linkage analysis: a unified multipoint approachL Kruglyak
Whitehead Institute for Biomedical Research, Cambridge
Am J Hum Genet 58:1347-63. 1996..The package allows efficient multipoint analysis of pedigree data to be performed rapidly in a single user-friendly environment...
- Haploview: analysis and visualization of LD and haplotype mapsJ C Barrett
Whitehead Institute for Biomedical Research Cambridge, MA 02142, USA
Bioinformatics 21:263-5. 2005..Haploview is a software package that provides computation of linkage disequilibrium statistics and population haplotype patterns from primary genotype data in a visually appealing and interactive interface...
- A comprehensive genetic map of the mouse genomeW F Dietrich
Whitehead MIT Center for Genome Research, Whitehead Institute for Biomedical Research, Cambridge, MA 02142, USA
Nature 380:149-52. 1996..The average spacing between markers is about 0.2 centimorgans or 400 kilobases...
- Large-scale discovery and genotyping of single-nucleotide polymorphisms in the mouseK Lindblad-Toh
Whitehead Institute MIT Center for Genome Research, Whitehead Institute for Biomedical Research, Cambridge, MA, USA
Nat Genet 24:381-6. 2000..We have also developed a multiplex genotyping procedure by which a genome scan can be performed with only six genotyping reactions per animal...
- Genomewide linkage analysis of stature in multiple populations reveals several regions with evidence of linkage to adult heightJ N Hirschhorn
Whitehead MIT Center for Genome Research, One Kendall Square, Cambridge, MA 02139, USA
Am J Hum Genet 69:106-16. 2001..These studies suggest that highly heritable complex traits such as stature may be genetically tractable and provide insight into the genetic architecture of complex traits...
- Genomewide linkage analysis of bipolar disorder by use of a high-density single-nucleotide-polymorphism (SNP) genotyping assay: a comparison with microsatellite marker assays and finding of significant linkage to chromosome 6q22F A Middleton
Department of Neuroscience and Physiology, State University of New York SUNY, Syracuse, NY, USA
Am J Hum Genet 74:886-97. 2004....
- Genome-wide scan in Portuguese Island families implicates multiple loci in bipolar disorder: fine mapping adds support on chromosomes 6 and 11Carlos N Pato
Veterans Affairs Medical Center, Washington, DC 20422, USA
Am J Med Genet B Neuropsychiatr Genet 127:30-4. 2004..Our findings provide additional support for a susceptibility locus for bipolar disorder on 6q, as well as, suggesting the importance of denser scans. Published 2004 Wiley-Liss, Inc...
- A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16N Lee
Metabolism Research Programme, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada
Am J Hum Genet 68:397-409. 2001..Although the LSFC gene remains to be elucidated, the present study demonstrates the feasibility of using a genomewide LD strategy to localize the critical region for a rare genetic disease in a founder population...
- Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 geneP Ianakiev
Department of Pediatrics, University of Connecticut Health Center, Farmington, CT 06030, USA
Am J Hum Genet 68:38-45. 2001..Given the nature of the acheiropodia phenotype, it appears likely that the Lmbr1 gene plays an important role in limb development...
- Glycerol as a correlate of impaired glucose tolerance: dissection of a complex system by use of a simple genetic traitD Gaudet
Lipid Research Group, Chicoutimi Hospital, Chicoutimi, and Lipid Research Center, Laval University, Quebec, Canada ca
Am J Hum Genet 66:1558-68. 2000....
- Genetic mapping of a murine locus controlling development of T helper 1/T helper 2 type responsesJ D Gorham
Department of Pathology, Washington University School of Medicine, St Louis, MO 63110, USA
Proc Natl Acad Sci U S A 93:12467-72. 1996..1 shown to be associated with elevated serum IgE levels, suggesting that genetic control of Th1/Th2 differentiation in mouse, and of atopy development in humans, may be expressed through similar mechanisms...
- Genomewide search for type 2 diabetes mellitus susceptibility loci in Finnish families: the Botnia studyC M Lindgren
Department of Endocrinology, Wallenberg Laboratory, Malmo University Hospital, Malmo, Sweden
Am J Hum Genet 70:509-16. 2002..04 was observed. Together with data from other published genomewide scans, these findings lend support to the hypothesis that regions on chromosome 9p13-q21 and 12q24 may harbor susceptibility genes for type 2 diabetes...
- A simple, direct method for x-ray scatter estimation and correction in digital radiography and cone-beam CTJ H Siewerdsen
Ontario Cancer Institute, Princess Margaret Hospital, Toronto, Ontario, Canada M5G 2M9
Med Phys 33:187-97. 2006..Operating without prior information, analytical modeling, or Monte Carlo, the technique is easily incorporated as a preprocessing step in CBCT reconstruction to provide significant scatter reduction...
- IBD5 is associated with an extensive complicated Crohn's disease feature: implications from genotype-phenotype analysisS Brescianini
Gut 56:149-50. 2007
- Association testing of common variants in the insulin receptor substrate-1 gene (IRS1) with type 2 diabetesJ C Florez
Simches Research Building CPZN 6820, Diabetes Unit Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA
Diabetologia 50:1209-17. 2007..However, other nearby variants might account for the putative association signal...
- The role of the Toll receptor pathway in susceptibility to inflammatory bowel diseasesP L De Jager
Department of Neurology, Center for Neurologic Diseases, Brigham and Women s Hospital and Harvard Medical School, Boston, MA, USA
Genes Immun 8:387-97. 2007..16, 95% CI: 1.04-1.30; P=0.007) has a modest effect on risk of IBD. Our analysis, therefore, offers additional evidence that the TLR4 pathway - in this case, TLR4 and its signaling molecule TIRAP - plays a role in susceptibility to IBD...
- Whole-genome association study of bipolar disorderP Sklar
Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA
Mol Psychiatry 13:558-69. 2008..Given the heritability of BP disorder, the lack of agreement between studies emphasizes that susceptibility alleles are likely to be modest in effect size and require even larger samples for detection...
- Genetic architecture of tuberculosis resistance in a mouse model of infectionB S Yan
Department of Immunology and Infectious Diseases, Harvard School of Public Health, Boston, MA 02115, USA
Genes Immun 7:201-10. 2006..We now present further studies controlling for the effect of the sst1, identify four additional tuberculosis susceptibility loci and characterize their effects by testing an independent cross, knockout or congenic mice...
- Subpopulation difference scanning: a strategy for exclusion mapping of susceptibility genesE Salmela
Finnish Genome Center, University of Helsinki, Finland
J Med Genet 43:590-7. 2006..Association mapping is a common strategy for finding disease-related genes in complex disorders. Different association study designs exist, such as case-control studies or admixture mapping...
- Diagnostic misclassification reduces the ability to detect linkage in inflammatory bowel disease genetic studiesM S Silverberg
Department of Medicine, Mount Sinai Hospital Inflammatory Bowel Disease Centre, University of Toronto, Toronto, Canada
Gut 49:773-6. 2001..Even low rates of diagnostic misclassification can lead to significant loss of power to detect a true linkage, particularly for loci with modest effects as are likely to be found in IBD...
- MAPMAKER: an interactive computer package for constructing primary genetic linkage maps of experimental and natural populationsE S Lander
Whitehead Institute for Biomedical Research, Cambridge, Massachusetts 02142
Genomics 1:174-81. 1987..MAPMAKER has been applied to the construction of linkage maps in a number of organisms, including the human and several plants, and we outline the mapping strategies that have been used...
- Genome sequence and comparative analysis of the solvent-producing bacterium Clostridium acetobutylicumJ NOLLING
GTC Sequencing Center, Genome Therapeutics Corporation, Waltham, Massachusetts 02453, USA
J Bacteriol 183:4823-38. 2001..Thus, comparative analysis reveals both significant conservation of the genome organization and pronounced differences in many systems that reflect unique adaptive strategies of the two gram-positive bacteria...
- A map of human genome sequence variation containing 1.42 million single nucleotide polymorphismsR Sachidanandam
Cold Spring Harbor, New York 11724, USA
Nature 409:928-33. 2001..This high-density SNP map provides a public resource for defining haplotype variation across the genome, and should help to identify biomedically important genes for diagnosis and therapy...
- Specific expansion of protein families in the radioresistant bacterium Deinococcus radioduransK S Makarova
Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA
Genetica 108:25-34. 2000..Such unique proteins are good targets for knock-out and gene expression studies, which are aimed to shed light on the unusual features of this interesting bacterium...
- Geometric calibration of a mobile C-arm for intraoperative cone-beam CTM J Daly
Ontario Cancer Institute, Princess Margaret Hospital, Toronto, Ontario M5G 2M9, Canada
Med Phys 35:2124-36. 2008..Errors in the out-of-plane position of the source (Z(s)) and detector (Z(d)) and the detector angles (phi, theta, eta) were shown to have subtler effects on 3D image quality...