[HTML][HTML] Genome-wide association studies in ancestrally diverse populations: opportunities, methods, pitfalls, and recommendations
Genome-wide association studies (GWASs) have focused primarily on populations of
European descent, but it is essential that diverse populations become better represented …
European descent, but it is essential that diverse populations become better represented …
A generalized linear mixed model association tool for biobank-scale data
Compared with linear mixed model-based genome-wide association (GWA) methods,
generalized linear mixed model (GLMM)-based methods have better statistical properties …
generalized linear mixed model (GLMM)-based methods have better statistical properties …
Statistical methods for genome-wide association studies
Genome-wide association studies (GWAS) detect common genetic variants associated with
complex disorders. With their comprehensive coverage of common single nucleotide …
complex disorders. With their comprehensive coverage of common single nucleotide …
Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies
In genome-wide association studies (GWAS) for thousands of phenotypes in large biobanks,
most binary traits have substantially fewer cases than controls. Both of the widely used …
most binary traits have substantially fewer cases than controls. Both of the widely used …
A resource-efficient tool for mixed model association analysis of large-scale data
The genome-wide association study (GWAS) has been widely used as an experimental
design to detect associations between genetic variants and a phenotype. Two major …
design to detect associations between genetic variants and a phenotype. Two major …
Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale
Large-scale whole-genome sequencing studies have enabled the analysis of rare variants
(RVs) associated with complex phenotypes. Commonly used RV association tests have …
(RVs) associated with complex phenotypes. Commonly used RV association tests have …
Genetic association testing using the GENESIS R/Bioconductor package
Abstract Summary The Genomic Data Storage (GDS) format provides efficient storage and
retrieval of genotypes measured by microarrays and sequencing. We developed GENESIS …
retrieval of genotypes measured by microarrays and sequencing. We developed GENESIS …
ACAT: a fast and powerful p value combination method for rare-variant analysis in sequencing studies
Set-based analysis that jointly tests the association of variants in a group has emerged as a
popular tool for analyzing rare and low-frequency variants in sequencing studies. The …
popular tool for analyzing rare and low-frequency variants in sequencing studies. The …
Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies
Meta-analysis of whole genome sequencing/whole exome sequencing (WGS/WES) studies
provides an attractive solution to the problem of collecting large sample sizes for discovering …
provides an attractive solution to the problem of collecting large sample sizes for discovering …
Genome-wide association study reveals new insights into the heritability and genetic correlates of developmental dyslexia
Developmental dyslexia (DD) is a learning disorder affecting the ability to read, with a
heritability of 40–60%. A notable part of this heritability remains unexplained, and large …
heritability of 40–60%. A notable part of this heritability remains unexplained, and large …