[PDF][PDF] 15 years of GWAS discovery: realizing the promise

A Abdellaoui, L Yengo, KJH Verweij… - The American Journal of …, 2023 - cell.com
It has been 15 years since the advent of the genome-wide association study (GWAS) era.
Here, we review how this experimental design has realized its promise by facilitating an …

[PDF][PDF] Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease

W Zhou, M Kanai, KHH Wu, H Rasheed, K Tsuo… - Cell Genomics, 2022 - cell.com
Biobanks facilitate genome-wide association studies (GWASs), which have mapped
genomic loci across a range of human diseases and traits. However, most biobanks are …

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 …

Development and validation of a trans-ancestry polygenic risk score for type 2 diabetes in diverse populations

T Ge, MR Irvin, A Patki, V Srinivasasainagendra… - Genome medicine, 2022 - Springer
Abstract Background Type 2 diabetes (T2D) is a worldwide scourge caused by both genetic
and environmental risk factors that disproportionately afflicts communities of color …

Biobanking as a tool for genomic research: from allele frequencies to cross-ancestry association studies

TE Lazareva, YA Barbitoff, AI Changalidis… - Journal of Personalized …, 2022 - mdpi.com
In recent years, great advances have been made in the field of collection, storage, and
analysis of biological samples. Large collections of samples, biobanks, have been …

Boosting the power of genome-wide association studies within and across ancestries by using polygenic scores

AI Campos, S Namba, SC Lin, K Nam, J Sidorenko… - Nature Genetics, 2023 - nature.com
Genome-wide association studies (GWASs) have been mostly conducted in populations of
European ancestry, which currently limits the transferability of their findings to other …

Shared genetic architectures of educational attainment in East Asian and European populations

TT Chen, J Kim, M Lam, YF Chuang, YL Chiu… - Nature Human …, 2024 - nature.com
Educational attainment (EduYears), a heritable trait often used as a proxy for cognitive
ability, is associated with various health and social outcomes. Previous genome-wide …

Imputation accuracy across global human populations

JL Cahoon, X Rui, E Tang, C Simons, J Langie… - The American Journal of …, 2024 - cell.com
Genotype imputation is now fundamental for genome-wide association studies but lacks
fairness due to the underrepresentation of references from non-European ancestries. The …

Secondhand smoke increases the risk of developing chronic obstructive pulmonary disease

WC Su, HL Juan, JI Lee, SP Huang, SC Chen… - Scientific Reports, 2024 - nature.com
Smoking is the most important risk factor for chronic obstructive pulmonary disease (COPD),
however evidence from large-scale studies on whether secondhand smoke (SHS) increases …

[HTML][HTML] Fine-mapping across diverse ancestries drives the discovery of putative causal variants underlying human complex traits and diseases

K Yuan, RJ Longchamps, AF Pardiñas, M Yu, TT Chen… - medRxiv, 2023 - ncbi.nlm.nih.gov
Genome-wide association studies (GWAS) of human complex traits or diseases often
implicate genetic loci that span hundreds or thousands of genetic variants, many of which …