Genomes and Genes
Affiliation: University of Utah
- Impact of renal failure on the risk of myocardial infarction and deathSrinivasan Beddhu
Renal Section, Salt Lake VA Healthcare System, Salt Lake City, Utah, USA
Kidney Int 62:1776-83. 2002..We examined whether renal failure independently increases the risk of myocardial infarction and death...
- Identification of six loci associated with pelvic organ prolapse using genome-wide association analysisKristina Allen-Brady
Department of Medicine and Obstetrics, University of Utah, Salt Lake City, Utah, USA
Obstet Gynecol 118:1345-53. 2011..There is evidence that both environmental and genetic factors contribute to pelvic organ prolapse. We conducted a genome-wide association study to investigate whether common genetic variants modify the risk of pelvic organ prolapse...
- No evidence for IL1RAPL1 involvement in selected high-risk autism pedigrees from the AGRE data setKristina Allen-Brady
Utah ASD Research Project, Department of Psychiatry, University of Utah, Salt Lake City, Utah 84108, USA
Autism Res 4:293-6. 2011..In conclusion, coding changes of the IL1RAPL1 gene do not appear to be associated with ASD in selected AGRE families with linkage evidence to the chromosome Xp22.11-p21.2 region...
- A unified theory of autism revisited: linkage evidence points to chromosome X using a high-risk subset of AGRE familiesKristina Allen-Brady
Department of Psychiatry, Utah Autism Research Project, University of Utah, Salt Lake City, Utah, 84108, USA
Autism Res 3:47-52. 2010..These results demonstrate that identification of a more homogeneous subset of autism cases, which was based on family structure in this study, may help to identify, localize and further our understanding of autism predisposition genes...
- No evidence of BRCA2 mutations in chromosome 13q-linked Utah high-risk prostate cancer pedigreesKristina Allen Brady
Genetic Epidemiology Group, Department of Biomedical Informatics, University of Utah School of Medicine, 391 Chipeta Way, Suite D, Salt Lake City, UT 84108 USA
BMC Res Notes 2:94. 2009..CONCLUSION: In this set of high-risk prostate cancer pedigrees with at least nominal linkage evidence to BRCA2, we saw no evidence for segregating BRCA2 protein truncating mutations in heritable prostate cancer...
- Significant linkage evidence for a predisposition gene for pelvic floor disorders on chromosome 9q21Kristina Allen-Brady
Department of Biomedical Informatics, University of Utah School of Medicine, Salt Lake City, UT 84105, USA
Am J Hum Genet 84:678-82. 2009..41 under a recessive model. Seventeen pedigrees (53%) had at least nominal evidence for linkage on a by-pedigree basis at this region. These results provide evidence for a predisposition gene for PFDs on chromosome 9q...
- A high-density SNP genome-wide linkage scan in a large autism extended pedigreeK Allen-Brady
Department of Psychiatry, University of Utah, Salt Lake City, UT, USA
Mol Psychiatry 14:590-600. 2009....
- Analysis of high-density single-nucleotide polymorphism data: three novel methods that control for linkage disequilibrium between markers in a linkage analysisKristina Allen Brady
Department of Biomedical Informatics, University of Utah, 391 Chipeta Way, Suite D, Salt Lake City, Utah 84108, USA
BMC Proc 1:S160. 2007..Additional work is required to further understand the effects of LD on linkage results and explore LD control methodology...
- PedGenie: an analysis approach for genetic association testing in extended pedigrees and genealogies of arbitrary sizeKristina Allen-Brady
Genetic Epidemiology Division, Department of Medical Informatics, University of Utah Salt Lake City, Utah, USA
BMC Bioinformatics 7:209. 2006....
- Characterization of the linkage disequilibrium structure and identification of tagging-SNPs in five DNA repair genesKristina Allen-Brady
Department of Medical Informatics, University of Utah School of Medicine, Salt Lake City, Utah 84108, USA
BMC Cancer 5:99. 2005..In this study, we report the LD and haplotype architecture and tagging-single nucleotide polymorphisms (tSNPs) for five DNA repair genes: ATM, MRE11A, XRCC4, NBS1 and RAD50...
- A role for XRCC4 in age at diagnosis and breast cancer riskKristina Allen-Brady
Genetic Epidemiology, Department of Medical Informatics, University of Utah, Salt Lake City, 84108, USA
Cancer Epidemiol Biomarkers Prev 15:1306-10. 2006..Our results suggest that XRCC4 may play a role in the age at diagnosis and risk of breast cancer in non-BRCA1/2, heritable breast cancer cases...
- A unique genome-wide association analysis in extended Utah high-risk pedigrees identifies a novel melanoma risk variant on chromosome arm 10qCraig Teerlink
Division of Genetic Epidemiology, Department of Internal Medicine, University of Utah School of Medicine, Salt Lake City, UT 84132, USA
Hum Genet 131:77-85. 2012..Our approach illustrates an example of using high-risk pedigrees for the identification of new melanoma predisposition variants...
- Statistical recombinant mapping in extended high-risk Utah pedigrees narrows the 8q24 prostate cancer locus to 2.0 MbNicola J Camp
Division of Genetic Epidemiology, Department of Biomedical Informatics, University of Utah School of Medicine, Salt Lake City, Utah 84108, USA
Prostate 67:1456-64. 2007..In addition to potential allelic heterogeneity, 8q24 exhibits strong linkage disequilibrium over vast distances and is prone to chromosomal aberrations...
- PedGenie: meta genetic association testing in mixed family and case-control designsKaren Curtin
Department of Biomedical Informatics, University of Utah, Salt Lake City, UT 84108, USA
BMC Bioinformatics 8:448. 2007..4 software, is significantly enhanced by incorporating meta statistics for detecting genetic association with disease using data across multiple study groups...
- Genome-wide linkage using the Social Responsiveness Scale in Utah autism pedigreesHilary Coon
Utah Autism Research Project, Department of Psychiatry and Division of Genetic Epidemiology, University of Utah, 650 Komas Drive, Suite 206, Salt Lake City, UT 84108, USA
Mol Autism 1:8. 2010..Such data are available from the Social Responsiveness Scale (SRS) which is a continuous, quantitative measure of social ability giving scores that range from significant impairment to above average ability...
- A cautionary note on the appropriateness of using a linkage resource for an association studyKristina Allen-Brady
Genetic Epidemiology, Department of Medical Informatics, University of Utah School of Medicine, Salt Lake City, Utah, USA
BMC Genet 4:S89. 2003....
- Heterogeneous association between engrailed-2 and autism in the CPEA networkCamille W Brune
Department of Psychiatry, Institute for Juvenile Research, University of Illinois Chicago, Chicago, Illinois, USA
Am J Med Genet B Neuropsychiatr Genet 147:187-93. 2008..Future studies investigating EN2 should consider how the association of variants in this gene with autism could be influenced by differences in phenotype and possible interactions with genotypes at other autism candidate genes...
- Lobular breast cancer: excess familiality observed in the Utah Population DatabaseKristina Allen-Brady
Genetic Epidemiology, Department of Medical Informatics, University of Utah School of Medicine, Salt Lake City, 84108, USA
Int J Cancer 117:655-61. 2005..Relatives of women with LOB are at higher risk for BC than relatives of other BC subtypes; a more rigorous BC screening regime may be warranted for these individuals...
- Genetic distance and markers used in linkage mappingKristina Allen-Brady
Genetic Epidemiology Division, Department of Biomedical Informatics, University of Utah, Salt Lake City, UT, USA
Methods Mol Biol 713:43-53. 2011....
- A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genesDouglas F Easton
Genetic Epidemiology Unit, Strangeways Research Laboratories, University of Cambridge, Cambridge, UK
Am J Hum Genet 81:873-83. 2007..In addition to their utility for improved genetics counseling of patients and their families, the global assessment reported here will be invaluable for validation of functional assays, structural models, and in silico analyses...
- Meta-genetic association of rheumatoid arthritis and PTPN22 using PedGenie 2.1Karen Curtin
Division of Genetic Epidemiology, Department of Biomedical Informatics, University of Utah School of Medicine, 391 South Chipeta Way, Suite D, Salt Lake City, Utah 84108 1206, USA
BMC Proc 1:S12. 2007..More power to detect associations was achieved in certain analyses by using extra family-based samples, rather than restricting analyses to single cases randomly selected from each pedigree...
- Shared genomic segment analysis. Mapping disease predisposition genes in extended pedigrees using SNP genotype assaysA Thomas
Department of Biomedical Informatics, University of Utah, 391 Chipeta Way, Salt Lake City, UT 84108, USA
Ann Hum Genet 72:279-87. 2008....
- The familiality of pelvic organ prolapse in the Utah Population DatabasePeggy A Norton
Department of Obstetrics and Gynecology, Division of Urogynecology and Reconstructive Pelvic Surgery, University of Utah Health Sciences Center, Salt Lake City, UT 84132, USA
Int Urogynecol J 24:413-8. 2013..Pelvic organ prolapse (POP) in women is a common condition whose etiology is poorly understood. There is increasing evidence that POP is heritable. The aim of our study was to define and evaluate familial clustering of POP...
- Evaluation of genetic risk scores for lipid levels using genome-wide markers in the Framingham Heart StudyStephen R Piccolo
Department of Biomedical Informatics, School of Medicine, University of Utah, 26 South 2000 East, Salt Lake City, Utah 84112, USA
BMC Proc 3:S46. 2009..In this paper, we evaluate a weighted and an unweighted approach for estimating the combined effect of multiple markers (using genotypes and haplotypes) on lipid levels for a given individual...
- Genome-wide linkage analyses of two repetitive behavior phenotypes in Utah pedigrees with autism spectrum disordersDale S Cannon
Utah Autism Research Project, Department of Psychiatry, University of Utah, 650 Komas Drive, Suite 206, Salt Lake City, UT, 84108 3528, USA
Mol Autism 1:3. 2010..Secondary aims were to examine the correlates of IS and RSMA and to assess the heritability of both scales...
- Robust meta-analysis shows that glioma transcriptional subtyping complements traditional approachesSanghoon Lee
Department of Biochemistry, University of Utah, 15 North Medical Drive East, Rm 5800, Salt Lake City, UT, 84112, USA
Cell Oncol (Dordr) 37:317-29. 2014..This data set is the most comprehensive collection of glioma microarray samples compiled to date...
- Effect of linkage disequilibrium between markers in linkage and association analysesJosÃ©e Dupuis
Department of Biostatistics, Boston University School of Public Health, 715 Albany Street, Boston, MA 02118, USA
Genet Epidemiol 31:S139-48. 2007....