Genome-wide association studies
Genome-wide association studies (GWAS) test hundreds of thousands of genetic variants
across many genomes to find those statistically associated with a specific trait or disease …
across many genomes to find those statistically associated with a specific trait or disease …
Polygenic adaptation: a unifying framework to understand positive selection
Most adaption processes have a polygenic genetic basis, but even with the recent explosive
growth of genomic data we are still lacking a unified framework describing the dynamics of …
growth of genomic data we are still lacking a unified framework describing the dynamics of …
Analysis of polygenic risk score usage and performance in diverse human populations
A historical tendency to use European ancestry samples hinders medical genetics research,
including the use of polygenic scores, which are individual-level metrics of genetic risk. We …
including the use of polygenic scores, which are individual-level metrics of genetic risk. We …
Height and body-mass index trajectories of school-aged children and adolescents from 1985 to 2019 in 200 countries and territories: a pooled analysis of 2181 …
A Rodriguez-Martinez, B Zhou, MK Sophiea… - The Lancet, 2020 - thelancet.com
Background Comparable global data on health and nutrition of school-aged children and
adolescents are scarce. We aimed to estimate age trajectories and time trends in mean …
adolescents are scarce. We aimed to estimate age trajectories and time trends in mean …
[HTML][HTML] An expanded view of complex traits: from polygenic to omnigenic
A central goal of genetics is to understand the links between genetic variation and disease.
Intuitively, one might expect disease-causing variants to cluster into key pathways that drive …
Intuitively, one might expect disease-causing variants to cluster into key pathways that drive …
A method for genome-wide genealogy estimation for thousands of samples
Abstract Knowledge of genome-wide genealogies for thousands of individuals would
simplify most evolutionary analyses for humans and other species, but has remained …
simplify most evolutionary analyses for humans and other species, but has remained …
Polygenic adaptation on height is overestimated due to uncorrected stratification in genome-wide association studies
M Sohail, RM Maier, A Ganna, A Bloemendal… - Elife, 2019 - elifesciences.org
Genetic predictions of height differ among human populations and these differences have
been interpreted as evidence of polygenic adaptation. These differences were first detected …
been interpreted as evidence of polygenic adaptation. These differences were first detected …
Genetic architecture: the shape of the genetic contribution to human traits and disease
Genetic architecture describes the characteristics of genetic variation that are responsible for
heritable phenotypic variability. It depends on the number of genetic variants affecting a trait …
heritable phenotypic variability. It depends on the number of genetic variants affecting a trait …
Apparent latent structure within the UK Biobank sample has implications for epidemiological analysis
Large studies use genotype data to discover genetic contributions to complex traits and infer
relationships between those traits. Co-incident geographical variation in genotypes and …
relationships between those traits. Co-incident geographical variation in genotypes and …
Reduced signal for polygenic adaptation of height in UK Biobank
Several recent papers have reported strong signals of selection on European polygenic
height scores. These analyses used height effect estimates from the GIANT consortium and …
height scores. These analyses used height effect estimates from the GIANT consortium and …