Genome-wide association studies

E Uffelmann, QQ Huang, NS Munung… - Nature Reviews …, 2021 - nature.com
Genome-wide association studies (GWAS) test hundreds of thousands of genetic variants
across many genomes to find those statistically associated with a specific trait or disease …

From variant to function in human disease genetics

T Lappalainen, DG MacArthur - Science, 2021 - science.org
Over the next decade, the primary challenge in human genetics will be to understand the
biological mechanisms by which genetic variants influence phenotypes, including disease …

Genome-wide meta-analysis of insomnia prioritizes genes associated with metabolic and psychiatric pathways

K Watanabe, PR Jansen, JE Savage, P Nandakumar… - Nature …, 2022 - nature.com
Insomnia is a heritable, highly prevalent sleep disorder for which no sufficient treatment
currently exists. Previous genome-wide association studies with up to 1.3 million subjects …

Discovery and implications of polygenicity of common diseases

PM Visscher, L Yengo, NJ Cox, NR Wray - Science, 2021 - science.org
The sequencing of the human genome has allowed the study of the genetic architecture of
common diseases: the number of genomic variants that contribute to risk of disease and …

[PDF][PDF] The omnigenic model and polygenic prediction of complex traits

I Mathieson - The American Journal of Human Genetics, 2021 - cell.com
The omnigenic model was proposed as a framework to understand the highly polygenic
architecture of complex traits revealed by genome-wide association studies (GWASs). I …

Reviewing the genetics of heterogeneity in depression: operationalizations, manifestations and etiologies

N Cai, KW Choi, EI Fried - Human molecular genetics, 2020 - academic.oup.com
With progress in genome-wide association studies of depression, from identifying zero hits
in~ 16 000 individuals in 2013 to 223 hits in more than a million individuals in 2020 …

Limited overlap of eQTLs and GWAS hits due to systematic differences in discovery

H Mostafavi, JP Spence, S Naqvi, JK Pritchard - BioRxiv, 2022 - biorxiv.org
Most signals in genome-wide association studies (GWAS) of complex traits point to
noncoding genetic variants with putative gene regulatory effects. However, currently …

Genetic effects on the timing of parturition and links to fetal birth weight

P Solé-Navais, C Flatley, V Steinthorsdottir, M Vaudel… - Nature Genetics, 2023 - nature.com
The timing of parturition is crucial for neonatal survival and infant health. Yet, its genetic
basis remains largely unresolved. We present a maternal genome-wide meta-analysis of …

[PDF][PDF] Amplification is the primary mode of gene-by-sex interaction in complex human traits

C Zhu, MJ Ming, JM Cole, MD Edge, M Kirkpatrick… - Cell Genomics, 2023 - cell.com
Sex differences in complex traits are suspected to be in part due to widespread gene-by-sex
interactions (GxSex), but empirical evidence has been elusive. Here, we infer the mixture of …

A genome-wide genetic screen uncovers determinants of human pigmentation

VK Bajpai, T Swigut, J Mohammed, S Naqvi, M Arreola… - Science, 2023 - science.org
Skin color, one of the most diverse human traits, is determined by the quantity, type, and
distribution of melanin. In this study, we leveraged the light-scattering properties of melanin …