Evolutionary perspectives on polygenic selection, missing heritability, and GWAS
LH Uricchio - Human genetics, 2020 - Springer
Genome-wide association studies (GWAS) have successfully identified many trait-
associated variants, but there is still much we do not know about the genetic basis of …
associated variants, but there is still much we do not know about the genetic basis of …
Ultrarare variants drive substantial cis heritability of human gene expression
The vast majority of human mutations have minor allele frequencies under 1%, with the
plurality observed only once (that is,'singletons'). While Mendelian diseases are …
plurality observed only once (that is,'singletons'). While Mendelian diseases are …
Human demographic history has amplified the effects of background selection across the genome
Natural populations often grow, shrink, and migrate over time. Such demographic processes
can affect genome-wide levels of genetic diversity. Additionally, genetic variation in …
can affect genome-wide levels of genetic diversity. Additionally, genetic variation in …
Exploiting selection at linked sites to infer the rate and strength of adaptation
Genomic data encode past evolutionary events and have the potential to reveal the strength,
rate and biological drivers of adaptation. However, joint estimation of adaptation rate (α) and …
rate and biological drivers of adaptation. However, joint estimation of adaptation rate (α) and …
Selection and explosive growth alter genetic architecture and hamper the detection of causal rare variants
The role of rare alleles in complex phenotypes has been hotly debated, but most rare variant
association tests (RVATs) do not account for the evolutionary forces that affect genetic …
association tests (RVATs) do not account for the evolutionary forces that affect genetic …
A model of compound heterozygous, loss-of-function alleles is broadly consistent with observations from complex-disease GWAS datasets
JS Sanjak, AD Long, KR Thornton - PLoS genetics, 2017 - journals.plos.org
The genetic component of complex disease risk in humans remains largely unexplained. A
corollary is that the allelic spectrum of genetic variants contributing to complex disease risk …
corollary is that the allelic spectrum of genetic variants contributing to complex disease risk …
Singleton variants dominate the genetic architecture of human gene expression
The vast majority of human mutations have minor allele frequencies (MAF) under 1%, with
the plurality observed only once (ie,“singletons”). While Mendelian diseases are …
the plurality observed only once (ie,“singletons”). While Mendelian diseases are …
SFS_CODE: more efficient and flexible forward simulations
RD Hernandez, LH Uricchio - bioRxiv, 2015 - biorxiv.org
Modern implementations of forward population genetic simulations are efficient and flexible,
enabling the exploration of complex models that may otherwise be intractable. Here we …
enabling the exploration of complex models that may otherwise be intractable. Here we …
Population genetic simulation study of power in association testing across genetic architectures and study designs
DMH Tong, RD Hernandez - Genetic epidemiology, 2020 - Wiley Online Library
While it is well established that genetics can be a major contributor to population variation of
complex traits, the relative contributions of rare and common variants to phenotypic variation …
complex traits, the relative contributions of rare and common variants to phenotypic variation …
PGsim: a comprehensive and highly customizable personal genome simulator
L Juan, Y Wang, J Jiang, Q Yang, Q Jiang… - … in Bioengineering and …, 2020 - frontiersin.org
Although genome sequencing has become increasingly popular, the simulation of individual
genomes is still important. This is because sequencing a large number of individual …
genomes is still important. This is because sequencing a large number of individual …