All Stories

  1. ComPaSS-GWAS: A method to reduce type I error in genome-wide association studies when replication data are not available
  2. Inferring disease risk genes from sequencing data in multiplex pedigrees through sharing of rare variants
  3. Analysis of sequence data to identify potential risk variants for oral clefts in multiplex families
  4. gsSKAT: Rapid gene set analysis and multiple testing correction for rare-variant association studies using weighted linear kernels
  5. Rare copy number variants in patients with congenital conotruncal heart defects
  6. Whole exome association of rare deletions in multiplex oral cleft families
  7. A Hereditary Form of Small Intestinal Carcinoid Associated With a Germline Mutation in Inositol Polyphosphate Multikinase
  8. MP66-10 CHARACTERIZATION OF SUSCEPTIBILITY LOCI IN HEREDITARY PROSTATE CANCER FAMILIES USING COPY NUMBER VARIATION AND LINKAGE ANALYSIS
  9. Pleiotropy Analysis of Quantitative Traits at Gene Level by Multivariate Functional Linear Models
  10. Copy number variants encompassing Mendelian disease genes in a large multigenerational family segregating bipolar disorder
  11. High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets
  12. Gene-Gene Interaction AmongWNTGenes for Oral Cleft in Trios
  13. A Recurrent Mutation in PARK2 Is Associated with Familial Lung Cancer
  14. Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium
  15. VARIABLE SELECTION METHOD FOR THE IDENTIFIC ATION OF EPISTATIC MODELS
  16. 8q24 risk alleles and prostate cancer in African-Barbadian men
  17. Genome-Wide Meta-Analysis of Myopia and Hyperopia Provides Evidence for Replication of 11 Loci
  18. Generalized Functional Linear Models for Gene-Based Case-Control Association Studies
  19. Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma
  20. Risk estimation using probability machines
  21. False-positive rates in two-point parametric linkage analysis
  22. George Bonney (1947-2013) Remembered
  23. Functional Linear Models for Association Analysis of Quantitative Traits
  24. Nine Loci for Ocular Axial Length Identified through Genome-wide Association Studies, Including Shared Loci with Refractive Error
  25. Erratum: Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia
  26. Abstract 3648: Unraveling phenotype heterogeneity in prostate cancer susceptibility in Finland utilizing covariate-based analysis.
  27. Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia
  28. Matrix Metalloproteinases and Educational Attainment in Refractive Error
  29. HOXB13 is a susceptibility gene for prostate cancer: results from the International Consortium for Prostate Cancer Genetics (ICPCG)
  30. Genetic heterogeneity in Finnish hereditary prostate cancer using ordered subset analysis
  31. Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium
  32. A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta
  33. Performance of random forests and logic regression methods using mini-exome sequence data
  34. Comparison of results from tests of association in unrelated individuals with uncollapsed and collapsed sequence variants using tiled regression
  35. Identifying rare variants from exome scans: the GAW17 experience
  36. Old lessons learned anew: family-based methods for detecting genes responsible for quantitative and qualitative traits in the Genetic Analysis Workshop 17 mini-exome sequence data
  37. Suggestive evidence of linkage identified at chromosomes 12q24 and 2p16 in African American prostate cancer families from louisiana
  38. Abstract A69: Identification of prostate cancer genes in the African American Hereditary Prostate Cancer (AAHPC) study
  39. Genome-wide linkage scan for prostate cancer susceptibility in Finland: Evidence for a novel locus on 2q37.3 and confirmation of signal on 17q21-q22
  40. Brief review of regression‐based and machine learning methods in genetic epidemiology: the Genetic Analysis Workshop 17 experience
  41. Linkage Analysis in the Next-Generation Sequencing Era
  42. Regression and data mining methods for analyses of multiple rare variants in the Genetic Analysis Workshop 17 mini-exome data
  43. Association of Matrix Metalloproteinase Gene Polymorphisms with Refractive Error in Amish and Ashkenazi Families
  44. Contribution of HPC1 (RNASEL ) and HPCX variants to prostate cancer in a founder population
  45. Structure–Function Correlations Using Scanning Laser Polarimetry in Primary Angle-Closure Glaucoma and Primary Open-Angle Glaucoma
  46. A Susceptibility Locus on Chromosome 6q Greatly Increases Lung Cancer Risk among Light and Never Smokers
  47. Admixture Mapping of Obesity-related Traits in African Americans: The Atherosclerosis Risk in Communities (ARIC) Study
  48. Genome-wide Linkage Analysis of Multiple Metabolic Factors: Evidence of Genetic Heterogeneity
  49. Genome-wide linkage analysis of 1,233 prostate cancer pedigrees from the International Consortium for prostate cancer Genetics using novel sumLINK and sumLOD analyses
  50. Evaluation of random forests performance for genome-wide association studies in the presence of interaction effects
  51. Haplotype and Cell Proliferation Analyses of Candidate Lung Cancer Susceptibility Genes on Chromosome 15q24-25.1
  52. EPHA2 Is Associated with Age-Related Cortical Cataract in Mice and Humans
  53. Genomewide Linkage Scans for Ocular Refraction and Meta-analysis of Four Populations in the Myopia Family Study
  54. Polymorphisms in the neural nicotinic acetylcholine receptor α4 subunit (CHRNA4) are associated with ADHD in a genetic isolate
  55. Fine Mapping of Chromosome 6q23-25 Region in Familial Lung Cancer Families Reveals RGS17 as a Likely Candidate Gene
  56. Genome-wide Scan of African-American and White Families for Linkage to Myopia
  57. Identification of BRCA1 and BRCA2 genetic modifiers.
  58. Genome screen in familial intracranial aneurysm
  59. Application of sex-specific single-nucleotide polymorphism filters in genome-wide association data
  60. High carrier frequency for recessive OI in West Africans
  61. Familial Aggregation of Common Sequence Variants on 15q24-25.1 in Lung Cancer
  62. Genomewide scan of ocular refraction in African‐American families shows significant linkage to chromosome 7p15
  63. ARLTS1 germline variants and the risk for breast, prostate, and colorectal cancer
  64. Lung Cancer Susceptibility Genes
  65. Establishing an adjusted p-value threshold to control the family-wide type 1 error in genome wide association studies
  66. Examining the effect of linkage disequilibrium between markers on the Type I error rate and power of nonparametric multipoint linkage analysis of two-generation and multigenerational pedigrees in the presence of missing genotype data
  67. KLF6 IVS1 -27G>A Variant and the Risk of Prostate Cancer in Finland
  68. Heritability and Familial Aggregation of Refractive Error in the Old Order Amish
  69. Attention-Deficit/Hyperactivity Disorder and Comorbid Disruptive Behavior Disorders: Evidence of Pleiotropy and New Susceptibility Loci
  70. Replicating genotype–phenotype associations
  71. EGFR-T790M Is a Rare Lung Cancer Susceptibility Allele with Enhanced Kinase Activity
  72. Segregation analysis of 1,546 prostate cancer families in Finland shows recessive inheritance
  73. Normalization of microarray expression data using within-pedigree pool and its effect on linkage analysis
  74. Identification of a Novel Tumor Suppressor Gene p34 on Human Chromosome 6q25.1
  75. Genes, environment and the value of prospective cohort studies
  76. Segregation analysis of urothelial cell carcinoma
  77. Covariate-based linkage analysis: application of a propensity score as the single covariate consistently improves power to detect linkage
  78. Identification of genetic loci for basal cell nevus syndrome and inflammatory bowel disease in a single large pedigree
  79. Genomewide scan in Ashkenazi Jewish families demonstrates evidence of linkage of ocular refraction to a QTL on chromosome 1p36
  80. Parametric and Nonparametric Linkage Analysis
  81. Genome-wide linkage of 77 families from the African American Hereditary Prostate Cancer Study (AAHPC)
  82. Two-locus genome-wide linkage scan for prostate cancer susceptibility genes with an interaction effect
  83. A major locus for hereditary prostate cancer in Finland: localization by linkage disequilibrium of a haplotype in the HPCX region
  84. Genome-wide Scan for Myopia in the Old Order Amish
  85. Parametric versus nonparametric and two-point versus multipoint: controversies in gene mapping
  86. A major locus for hereditary prostate cancer in Finland: localization by linkage disequilibrium of a haplotype in the HPCX region
  87. Haplotypes and haplotype-tagging single-nucleotide polymorphism: Presentation Group 8 of Genetic Analysis Workshop 14
  88. Inheritance of Total Serum IgE in the Isolated Tangier Island Population from Virginia: Complexities Associated with Genealogical Depth of Pedigrees in Segregation Analyses
  89. Application of the propensity score in a covariate-based linkage analysis of the Collaborative Study on the Genetics of Alcoholism
  90. Identification of tag single-nucleotide polymorphisms in regions with varying linkage disequilibrium
  91. Haplotypic structure of the X chromosome in the COGA population sample and the quality of its reconstruction by extant software packages
  92. Genetic Analysis Workshop 14: Introduction to Workshop Summaries
  93. Investigation of altering single-nucleotide polymorphism density on the power to detect trait loci and frequency of false positive in nonparametric linkage analyses of qualitative traits
  94. Genetic Analysis Workshop 14: microsatellite and single-nucleotide polymorphism marker loci for genome-wide scans
  95. Attention-Deficit/Hyperactivity Disorder in a Population Isolate: Linkage to Loci at 4q13.2, 5q33.3, 11q22, and 17p11
  96. Attention-Deficit/Hyperactivity Disorder and Comorbidities in 18 Paisa Colombian Multigenerational Families
  97. Candidate high myopia loci on chromosomes 18p and 12q do not play a major role in susceptibility to common myopia. Ibay G, Doan B, Reider L, Dana D, Schlifka M, Hu H, Holmes T, O’Neill J, Owens R, Ciner E, Bailey-Wilson JE, Stambolian D. BMC Med Gen 20...
  98. Hereditary prostate cancer in Finland: fine-mapping validates 3p26 as a major predisposition locus
  99. Genomewide Linkage Scan for Myopia Susceptibility Loci among Ashkenazi Jewish Families Shows Evidence of Linkage on Chromosome 22q12
  100. Penetrances of breast and ovarian cancer in a large series of families tested for BRCA1/2 mutations
  101. A Major Lung Cancer Susceptibility Locus Maps to Chromosome 6q23–25
  102. Meta-Analysis of 13 Genome Scans Reveals Multiple Cleft Lip/Palate Genes with Novel Loci on 9q21 and 2q32-35
  103. The number of STR markers necessary to resolve relationships in deficiency paternity cases
  104. Erratum: Genome-wide scanning for linkage in Finnish breast cancer families
  105. Genome-wide scan for linkage in finnish hereditary prostate cancer (HPC) families identifies novel susceptibility loci at 11q14 and 3p25-26
  106. A genome-wide scan for loci predisposing to non-syndromic cleft lip with or without cleft palate in two large Syrian families
  107. Evidence for linkage of nonsyndromic cleft lip with or without cleft palate to a region on chromosome 2
  108. Genome-wide scanning for linkage in Finnish breast cancer families
  109. Localization of a Novel Melanoma Susceptibility Locus to 1p22
  110. Estimation of Linkage and Association from Allele Transmission Data
  111. A novel NFKB1 promoter polymorphism shows altered binding to nuclear proteins and increases risk for ulcerative colitis
  112. Importance sampling method of correction for multiple testing in affected sib-pair linkage analysis
  113. Genetic Analysis Workshop 13: Analysis of Longitudinal Family Data for Complex Diseases and Related Risk Factors
  114. Segregation analysis of 389 Icelandic pedigrees with Breast and prostate cancer
  115. Germline mutations and sequence variants of the macrophage scavenger receptor 1 gene are associated with prostate cancer risk
  116. Evidence for a major gene influencing risk of pancreatic cancer
  117. Hypercholesterolemia in children with Smith-Magenis syndrome: del (17)(p11.2p11.2)
  118. Germline Alterations of the RNASEL Gene, a Candidate HPC1 Gene at 1q25, in Patients and Families with Prostate Cancer
  119. Transmission/disequilibrium tests of androgen receptor and glutathione S-transferase pi variants in prostate cancer families
  120. A Comprehensive Method for Genome Scans
  121. Novel region of interest in chromosome 11 and other putative regions identified in a genome-wide scan in finnish hereditary prostate cancer families
  122. Physical and Transcript Map of the Hereditary Prostate Cancer Region at Xq27
  123. A genomic map of a 6-Mb region at 13q21-q22 implicated in cancer development: identification and characterization of candidate genes
  124. Effects of misspecification of allele frequencies on the power of Haseman‐Elston sib‐pair linkage method for quantitative traits
  125. A genome wide screen in an unusually large inflammatory bowel disease pedigree: Suggestive evidence for linkage on chromosomes 18p, 7p and 15q; No evidence for IBD1 or IBD2 loci
  126. Evaluation of Linkage and Association of HPC2/ELAC2 in Patients with Familial or Sporadic Prostate Cancer
  127. Effects of misspecification of allele frequencies on the power of Haseman-Elston sib-pair linkage method for quantitative traits
  128. Autosomal dominant inheritance of prostate cancer: a confirmatory study
  129. Linkage heterogeneity for the IBD1 locus in Crohn's disease pedigrees by disease onset and severity
  130. Recruitment Experience in the First Phase of the African American Hereditary Prostate Cancer (AAHPC) Study
  131. Analysis of HPC1, HPCX, and PCaP in Icelandic hereditary prostate cancer
  132. Segregation Analysis of Esophageal Cancer in a Moderately High–Incidence Area of Northern China
  133. Crohn's disease diagnosis before age 22 and with greater severity of disease identifies multiplex pedigrees at greater risk for locus IBD1
  134. The Transmission/Disequilibrium Test for Linkage on the X Chromosome
  135. Genetic epidemiology of breast cancer: Segregation analysis of 389 Icelandic pedigrees
  136. Genetic epidemiology of breast cancer: Segregation analysis of 389 Icelandic pedigrees
  137. Localization of a Gene for Duane Retraction Syndrome to Chromosome 2q31
  138. Effects of Misspecification of Allele Frequencies on the Type I Error Rate of Model-Free Linkage Analysis
  139. DETERMINATION OF GENETIC SUSCEPTIBILITY TO LUNG CANCER IN FAMILIES FROM SOUTHERN LOUISIANA, AN UPDATE
  140. Risk of abnormal pregnancy outcome in carriers of balanced reciprocal translocations involving the Miller-Dieker syndrome (MDS) critical region in chromosome 17p13.3
  141. Risk of abnormal pregnancy outcome in carriers of balanced reciprocal translocations involving the Miller‐Dieker syndrome (MDS) critical region in chromosome 17p13.3
  142. GENETIC EPIDEMIOLOGY OF HEREDITARY PROSTATE CANCER IN FINLAND
  143. Mild association between the A/G polymorphism in the promoter of the apolipoprotein A‐I gene and apolipoprotein A‐I levels: A meta‐analysis
  144. Mild association between the A/G polymorphism in the promoter of the apolipoprotein A-I gene and apolipoprotein A-I levels: A meta-analysis
  145. Possible linkage of alcoholism, monoamine oxidase activity and P300 amplitude to markers on chromosome 12q24
  146. Environmental covariates: Effects on the power of sib-pair linkage methods
  147. Survey of genetic counselors and clinical geneticists regarding recurrence risks for families with nonsyndromic cleft lip with or without cleft palate
  148. Segregation analysis of cutaneous melanoma in Queensland
  149. Segregation analysis of cutaneous melanoma in Queensland
  150. Response to Craddock et al.
  151. Comparison of sib-pair and variance-components methods for genomic screening
  152. Comparison of sib‐pair and variance‐components methods for genomic screening
  153. Comparison of selected methods used to analyze bipolar disorder
  154. Comparison of selected methods used to analyze bipolar disorder
  155. On the distribution of the likelihood ratio test statistic for a mixture of two normal distributions
  156. Bipolar disorder: Evidence for a major locus
  157. Model-free association analysis of a rare Disease
  158. Effects of marker information on sib-pair linkage analysis of a rare disease
  159. Segregation analysis of smoking-associated malignancies: Evidence for mendelian inheritance
  160. Sib-pair linkage analyses of Alzheimer's disease
  161. The HGAR1 familial hypercholesterolemia pedigree
  162. Linkage analysis in a large pedigree ascertained due to essential familial hypercholesterolemia
  163. Potential role of an additive genetic component in the cause of amyotrophic lateral sclerosis and parkinsonism-dementia in the western Pacific
  164. Segregation analysis of autosomal dominant polycystic kidney disease
  165. Effect of cohort differences in smoking prevalence on models of lung cancer susceptibility
  166. Sib-pair linkage analysis applied to pedigrees with melanoma and dysplastic nevi
  167. Computational aspects of fittlng a mixture of two normal distributions using maximum likelihood
  168. Response
  169. Evidence for Mendelian Inheritance in the Pathogenesis of Lung Cancer
  170. Stepwise oligogenic segregation and linkage analysis illustrated with dopamine-β-hydroxylase activity
  171. A more powerful robust sib-pair test of linkage for quantitative traits
  172. INCREASED FAMILIAL RISK FOR NON-LUNG CANCER AMONG RELATWES OF LUNG CANCER PATIENTS
  173. Discrimination of heterozygotes for phenylketonuria, persistent hyperphenylalaninemia and controls by phenylalanine loading
  174. Critique of a published analysis of the Jacobsen data
  175. Genetic analysis of human breast cancer: A synthesis of contributions to Gaw IV
  176. Segregation analysis of hereditary nonpolyposis colorectal cancer
  177. Genetic analysis of human breast cancer: Literature review and description of family data in workshop
  178. Linkage analysis of Dutch families at high risk for breast cancer
  179. Discrimination of phenylketonurics from persistent hyperphenylalaninemia patients using a simple phenylalanine loading test
  180. Hereditary nonpolyposis colorectal cancer (lynch syndromes I and II). II. Biomarker studies
  181. Hereditary nonpolyposis colorectal cancer (lynch syndromes I and II). I. Clinical description of resource
  182. A TWO HOUR PHENYLALANINE (P) LOAD FOR CARRIER DETECTION OF PHENYLKETONURIA (PUK)