[PDF][PDF] PLEIO: a method to map and interpret pleiotropic loci with GWAS summary statistics

CH Lee, H Shi, B Pasaniuc, E Eskin, B Han - The American Journal of …, 2021 - cell.com
Identifying and interpreting pleiotropic loci is essential to understanding the shared etiology
among diseases and complex traits. A common approach to mapping pleiotropic loci is to …

[HTML][HTML] Quantifying the mapping precision of genome-wide association studies using whole-genome sequencing data

Y Wu, Z Zheng, PM Visscher, J Yang - Genome biology, 2017 - Springer
Background Understanding the mapping precision of genome-wide association studies
(GWAS), that is the physical distances between the top associated single-nucleotide …

[HTML][HTML] Primo: integration of multiple GWAS and omics QTL summary statistics for elucidation of molecular mechanisms of trait-associated SNPs and detection of …

KJ Gleason, F Yang, BL Pierce, X He, LS Chen - Genome biology, 2020 - Springer
To provide a comprehensive mechanistic interpretation of how known trait-associated SNPs
affect complex traits, we propose a method, Primo, for integrative analysis of GWAS …

Accounting for ancestry: population substructure and genome-wide association studies

C Tian, PK Gregersen, MF Seldin - Human molecular genetics, 2008 - academic.oup.com
Accounting for the genetic substructure of human populations has become a major practical
issue for studying complex genetic disorders. Allele frequency differences among ethnic …

Self-reported ethnicity, genetic structure and the impact of population stratification in a multiethnic study

H Wang, CA Haiman, LN Kolonel, BE Henderson… - Human genetics, 2010 - Springer
It is well-known that population substructure may lead to confounding in case–control
association studies. Here, we examined genetic structure in a large racially and ethnically …

[PDF][PDF] Presence of multiple independent effects in risk loci of common complex human diseases

X Ke - The American Journal of Human Genetics, 2012 - cell.com
Many genetic loci and SNPs associated with many common complex human diseases and
traits are now identified. The total genetic variance explained by these loci for a trait or …

[PDF][PDF] Interpretation of association signals and identification of causal variants from genome-wide association studies

K Wang, SP Dickson, CA Stolle, ID Krantz… - The American Journal of …, 2010 - cell.com
GWAS have been successful in identifying disease susceptibility loci, but it remains a
challenge to pinpoint the causal variants in subsequent fine-mapping studies. A …

[HTML][HTML] Quantifying genetic heterogeneity between continental populations for human height and body mass index

J Guo, A Bakshi, Y Wang, L Jiang, L Yengo… - Scientific reports, 2021 - nature.com
Genome-wide association studies (GWAS) in samples of European ancestry have identified
thousands of genetic variants associated with complex traits in humans. However, it remains …

Allelic heterogeneity and more detailed analyses of known loci explain additional phenotypic variation and reveal complex patterns of association

AR Wood, DG Hernandez, MA Nalls… - Human molecular …, 2011 - academic.oup.com
The identification of multiple signals at individual loci could explain additional phenotypic
variance ('missing heritability') of common traits, and help identify causal genes. We …

[PDF][PDF] Quantifying the contribution of dominance deviation effects to complex trait variation in biobank-scale data

A Pazokitoroudi, AM Chiu, KS Burch, B Pasaniuc… - The American Journal of …, 2021 - cell.com
The proportion of variation in complex traits that can be attributed to non-additive genetic
effects has been a topic of intense debate. The availability of biobank-scale datasets of …