[HTML][HTML] Genome-wide association studies in ancestrally diverse populations: opportunities, methods, pitfalls, and recommendations

RE Peterson, K Kuchenbaecker, RK Walters, CY Chen… - Cell, 2019 - cell.com
Genome-wide association studies (GWASs) have focused primarily on populations of
European descent, but it is essential that diverse populations become better represented …

Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

D Taliun, DN Harris, MD Kessler, J Carlson… - Nature, 2021 - nature.com
Abstract The Trans-Omics for Precision Medicine (TOPMed) programme seeks to elucidate
the genetic architecture and biology of heart, lung, blood and sleep disorders, with the …

Genomic analyses inform on migration events during the peopling of Eurasia

L Pagani, DJ Lawson, E Jagoda, A Mörseburg… - Nature, 2016 - nature.com
High-coverage whole-genome sequence studies have so far focused on a limited number of
geographically restricted populations,,,, or been targeted at specific diseases, such as …

Whole-genome sequencing analysis of the cardiometabolic proteome

A Gilly, YC Park, G Png, A Barysenka, I Fischer… - Nature …, 2020 - nature.com
The human proteome is a crucial intermediate between complex diseases and their genetic
and environmental components, and an important source of drug development targets and …

The transferability of lipid loci across African, Asian and European cohorts

K Kuchenbaecker, N Telkar, T Reiker… - Nature …, 2019 - nature.com
Most genome-wide association studies are based on samples of European descent. We
assess whether the genetic determinants of blood lipids, a major cardiovascular risk factor …

SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues

M D'Antonio, JP Nguyen, TD Arthur, H Matsui… - Cell reports, 2021 - cell.com
Variability in SARS-CoV-2 susceptibility and COVID-19 disease severity between
individuals is partly due to genetic factors. Here, we identify 4 genomic loci with suggestive …

WGS data collections: how do genomic databases transform medicine?

ZJ Król, P Dobosz, A Ślubowska… - International Journal of …, 2023 - mdpi.com
As a scientific community we assumed that exome sequencing will elucidate the basis of
most heritable diseases. However, it turned out it was not the case; therefore, attention has …

Improved power and precision with whole genome sequencing data in genome-wide association studies of inflammatory biomarkers

J Höglund, N Rafati, M Rask-Andersen, S Enroth… - Scientific reports, 2019 - nature.com
Genome-wide association studies (GWAS) have identified associations between thousands
of common genetic variants and human traits. However, common variants usually explain a …

Very low-depth whole-genome sequencing in complex trait association studies

A Gilly, L Southam, D Suveges… - …, 2019 - academic.oup.com
Motivation Very low-depth sequencing has been proposed as a cost-effective approach to
capture low-frequency and rare variation in complex trait association studies. However, a full …

Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry

SH Mueller, AG Lai, M Valkovskaya, K Michailidou… - Genome medicine, 2023 - Springer
Background Low-frequency variants play an important role in breast cancer (BC)
susceptibility. Gene-based methods can increase power by combining multiple variants in …