Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data

P Wainschtein, D Jain, Z Zheng, LA Cupples… - Nature …, 2022 - nature.com
Analyses of data from genome-wide association studies on unrelated individuals have
shown that, for human traits and diseases, approximately one-third to two-thirds of …

[HTML][HTML] Causal inference for heritable phenotypic risk factors using heterogeneous genetic instruments

J Wang, Q Zhao, J Bowden, G Hemani… - PLoS …, 2021 - journals.plos.org
Over a decade of genome-wide association studies (GWAS) have led to the finding of
extreme polygenicity of complex traits. The phenomenon that “all genes affect every complex …

[PDF][PDF] Probabilistic colocalization of genetic variants from complex and molecular traits: promise and limitations

A Hukku, M Pividori, F Luca, R Pique-Regi… - The American Journal of …, 2021 - cell.com
Colocalization analysis has emerged as a powerful tool to uncover the overlapping of causal
variants responsible for both molecular and complex disease phenotypes. The findings from …

PGMRA: a web server for (phenotype× genotype) many-to-many relation analysis in GWAS

J Arnedo, C del Val, GA de Erausquin… - Nucleic Acids …, 2013 - academic.oup.com
It has been proposed that single nucleotide polymorphisms (SNPs) discovered by genome-
wide association studies (GWAS) account for only a small fraction of the genetic variation of …

A global overview of pleiotropy and genetic architecture in complex traits

K Watanabe, S Stringer, O Frei, M Umićević Mirkov… - Nature …, 2019 - nature.com
After a decade of genome-wide association studies (GWASs), fundamental questions in
human genetics, such as the extent of pleiotropy across the genome and variation in genetic …

A plethora of pleiotropy across complex traits

PM Visscher, J Yang - Nature genetics, 2016 - nature.com
A new analysis has identified hundreds of loci that are associated with multiple traits or
diseases by comparing genome-wide association study (GWAS) data for 42 complex traits …

[PDF][PDF] Prospects of fine-mapping trait-associated genomic regions by using summary statistics from genome-wide association studies

C Benner, AS Havulinna, MR Järvelin… - The American Journal of …, 2017 - cell.com
During the past few years, various novel statistical methods have been developed for fine-
mapping with the use of summary statistics from genome-wide association studies (GWASs) …

Consistency of genome-wide associations across major ancestral groups

EE Ntzani, G Liberopoulos, TA Manolio, JPA Ioannidis - Human genetics, 2012 - Springer
It is not well known whether genetic markers identified through genome-wide association
studies (GWAS) confer similar or different risks across people of different ancestry. We …

The nature of genetic variation for complex traits revealed by GWAS and regional heritability mapping analyses

A Caballero, A Tenesa, PD Keightley - Genetics, 2015 - academic.oup.com
We use computer simulations to investigate the amount of genetic variation for complex traits
that can be revealed by single-SNP genome-wide association studies (GWAS) or regional …

Improving polygenic prediction in ancestrally diverse populations

Y Ruan, YF Lin, YCA Feng, CY Chen, M Lam, Z Guo… - Nature …, 2022 - nature.com
Polygenic risk scores (PRS) have attenuated cross-population predictive performance. As
existing genome-wide association studies (GWAS) have been conducted predominantly in …