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 …

Pharmacogenomics beyond single common genetic variants: the way forward

VM Lauschke, Y Zhou… - Annual Review of …, 2024 - annualreviews.org
Interindividual variability in genes encoding drug-metabolizing enzymes, transporters,
receptors, and human leukocyte antigens has a major impact on a patient's response to …

Rare coding variant analysis for human diseases across biobanks and ancestries

SJ Jurgens, X Wang, SH Choi, LC Weng, S Koyama… - Nature Genetics, 2024 - nature.com
Large-scale sequencing has enabled unparalleled opportunities to investigate the role of
rare coding variation in human phenotypic variability. Here, we present a pan-ancestry …

Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program

A Verma, JE Huffman, A Rodriguez, M Conery, M Liu… - Science, 2024 - science.org
One of the justifiable criticisms of human genetic studies is the underrepresentation of
participants from diverse populations. Lack of inclusion must be addressed at-scale to …

A whole-genome reference panel of 14,393 individuals for East Asian populations accelerates discovery of rare functional variants

J Choi, S Kim, J Kim, HY Son, SK Yoo, CU Kim… - Science …, 2023 - science.org
Underrepresentation of non-European (EUR) populations hinders growth of global precision
medicine. Resources such as imputation reference panels that match the study population …

Calibrated prediction intervals for polygenic scores across diverse contexts

K Hou, Z Xu, Y Ding, R Mandla, Z Shi, K Boulier… - Nature Genetics, 2024 - nature.com
Polygenic scores (PGS) have emerged as the tool of choice for genomic prediction in a wide
range of fields. We show that PGS performance varies broadly across contexts and …

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 …

Precision medicine in complex diseases—Molecular subgrou** for improved prediction and treatment stratification

Å Johansson, OA Andreassen, S Brunak… - Journal of internal …, 2023 - Wiley Online Library
Complex diseases are caused by a combination of genetic, lifestyle, and environmental
factors and comprise common noncommunicable diseases, including allergies …

Community-wide genome sequencing reveals 30 years of Darwin's finch evolution

ED Enbody, AT Sendell-Price, CG Sprehn, CJ Rubin… - Science, 2023 - science.org
A fundamental goal in evolutionary biology is to understand the genetic architecture of
adaptive traits. Using whole-genome data of 3955 of Darwin's finches on the Galápagos …

Proteogenomic analysis of human cerebrospinal fluid identifies neurologically relevant regulation and implicates causal proteins for Alzheimer's disease

D Western, J Timsina, L Wang, C Wang, C Yang… - Nature Genetics, 2024 - nature.com
The integration of quantitative trait loci (QTLs) with disease genome-wide association
studies (GWASs) has proven successful in prioritizing candidate genes at disease …