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Article
Open AccessA resource of induced pluripotent stem cell (iPSC) lines including clinical, genomic, and cellular data from genetically isolated families with mood and psychotic disorders
Genome-wide (GWAS) and copy number variant (CNV) association studies have reproducibly identified numerous risk alleles associated with bipolar disorder (BD), major depressive disorder (MDD), and schizophrenia...
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Article
Open AccessExome-wide association study of treatment-resistant depression suggests novel treatment targets
Treatment-resistant depression (TRD) is a severe form of major depressive disorder (MDD) with substantial public health impact and poor treatment outcome. Treatment outcome in MDD is significantly heritable, b...
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Article
Open AccessType I error rates of rare single nucleotide variants are inflated in tests of association with non–normally distributed traits using simple linear regression methods
In this study, the effects of (a) the minor allele frequency of the single nucleotide variant (SNV), (b) the degree of departure from normality of the trait, and (c) the position of the SNVs on type I error ra...
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Article
Open AccessComparison of results from tests of association in unrelated individuals with uncollapsed and collapsed sequence variants using tiled regression
Tiled regression is an approach designed to determine the set of independent genetic variants that contribute to the variation of a quantitative trait in the presence of many highly correlated variants. In thi...
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Article
Open AccessPerformance of random forests and logic regression methods using mini-exome sequence data
Machine learning approaches are an attractive option for analyzing large-scale data to detect genetic variants that contribute to variation of a quantitative trait, without requiring specific distributional as...
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Article
Open AccessOld 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
Family-based study designs are again becoming popular as new next-generation sequencing technologies make whole-exome and whole-genome sequencing projects economically and temporally feasible. Here we evaluate...
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Article
Open AccessA combined genome-wide linkage and association approach to find susceptibility loci for platelet function phenotypes in European American and African American families with coronary artery disease
The inability of aspirin (ASA) to adequately suppress platelet aggregation is associated with future risk of coronary artery disease (CAD). Heritability studies of agonist-induced platelet function phenotypes ...
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Article
Open AccessEvaluation of random forests performance for genome-wide association studies in the presence of interaction effects
Random forests (RF) is one of a broad class of machine learning methods that are able to deal with large-scale data without model specification, which makes it an attractive method for genome-wide association ...
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Article
Open AccessA gene-model-free method for linkage analysis of a disease-related-trait based on analysis of proband/sibling pairs
In this paper we investigate the power of finding linkage to a disease locus through analysis of the disease-related traits. We propose two family-based gene-model-free linkage statistics. Both involve conside...
