The impact of rare and low-frequency genetic variants in common disease
Despite thousands of genetic loci identified to date, a large proportion of genetic variation
predisposing to complex disease and traits remains unaccounted for. Advances in …
predisposing to complex disease and traits remains unaccounted for. Advances in …
Rare-variant association analysis: study designs and statistical tests
Despite the extensive discovery of trait-and disease-associated common variants, much of
the genetic contribution to complex traits remains unexplained. Rare variants can explain …
the genetic contribution to complex traits remains unexplained. Rare variants can explain …
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease
We conducted a meta-analysis of Parkinson's disease genome-wide association studies
using a common set of 7,893,274 variants across 13,708 cases and 95,282 controls. Twenty …
using a common set of 7,893,274 variants across 13,708 cases and 95,282 controls. Twenty …
Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies
Accurate deleteriousness prediction for nonsynonymous variants is crucial for distinguishing
pathogenic mutations from background polymorphisms in whole exome sequencing (WES) …
pathogenic mutations from background polymorphisms in whole exome sequencing (WES) …
Whole‐genome sequencing identifies EN1 as a determinant of bone density and fracture
The extent to which low‐frequency (minor allele frequency (MAF) between 1–5%) and rare
(MAF≤ 1%) variants contribute to complex traits and disease in the general population is …
(MAF≤ 1%) variants contribute to complex traits and disease in the general population is …
Genetic variance estimation with imputed variants finds negligible missing heritability for human height and body mass index
We propose a method (GREML-LDMS) to estimate heritability for human complex traits in
unrelated individuals using whole-genome sequencing data. We demonstrate using …
unrelated individuals using whole-genome sequencing data. We demonstrate using …
minimac2: faster genotype imputation
Genotype imputation is a key step in the analysis of genome-wide association studies.
Upcoming very large reference panels, such as those from The 1000 Genomes Project and …
Upcoming very large reference panels, such as those from The 1000 Genomes Project and …
Cohort Profile: The Framingham Heart Study (FHS): overview of milestones in cardiovascular epidemiology
CW Tsao, RS Vasan - International journal of epidemiology, 2015 - academic.oup.com
Abstract The Framingham Heart Study (FHS) has conducted seminal research defining
cardiovascular disease (CVD) risk factors and fundamentally shaping public health …
cardiovascular disease (CVD) risk factors and fundamentally shaping public health …
In silico prediction of splice-altering single nucleotide variants in the human genome
X Jian, E Boerwinkle, X Liu - Nucleic acids research, 2014 - academic.oup.com
In silico tools have been developed to predict variants that may have an impact on pre-
mRNA splicing. The major limitation of the application of these tools to basic research and …
mRNA splicing. The major limitation of the application of these tools to basic research and …
Searching for missing heritability: designing rare variant association studies
Genetic studies have revealed thousands of loci predisposing to hundreds of human
diseases and traits, revealing important biological pathways and defining novel therapeutic …
diseases and traits, revealing important biological pathways and defining novel therapeutic …