Mendelian randomization

E Sanderson, MM Glymour, MV Holmes… - Nature Reviews …, 2022 - nature.com
Mendelian randomization (MR) is a term that applies to the use of genetic variation to
address causal questions about how modifiable exposures influence different outcomes …

Measuring biological age using omics data

J Rutledge, H Oh, T Wyss-Coray - Nature Reviews Genetics, 2022 - nature.com
Age is the key risk factor for diseases and disabilities of the elderly. Efforts to tackle age-
related diseases and increase healthspan have suggested targeting the ageing process …

FinnGen provides genetic insights from a well-phenotyped isolated population

MI Kurki, J Karjalainen, P Palta, TP Sipilä… - Nature, 2023 - nature.com
Population isolates such as those in Finland benefit genetic research because deleterious
alleles are often concentrated on a small number of low-frequency variants (0.1%≤ minor …

Systematic differences in discovery of genetic effects on gene expression and complex traits

H Mostafavi, JP Spence, S Naqvi, JK Pritchard - Nature Genetics, 2023 - nature.com
Most signals in genome-wide association studies (GWAS) of complex traits implicate
noncoding genetic variants with putative gene regulatory effects. However, currently …

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 …

Genetic control of RNA splicing and its distinct role in complex trait variation

T Qi, Y Wu, H Fang, F Zhang, S Liu, J Zeng, J Yang - Nature genetics, 2022 - nature.com
Most genetic variants identified from genome-wide association studies (GWAS) in humans
are noncoding, indicating their role in gene regulation. Previous studies have shown …

Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci

X Han, P Gharahkhani, AR Hamel, JS Ong… - Nature …, 2023 - nature.com
Glaucoma, a leading cause of irreversible blindness, is a highly heritable human disease.
Previous genome-wide association studies have identified over 100 loci for the most …

Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity

S Gazal, O Weissbrod, F Hormozdiari, KK Dey… - Nature Genetics, 2022 - nature.com
Disease-associated single-nucleotide polymorphisms (SNPs) generally do not implicate
target genes, as most disease SNPs are regulatory. Many SNP-to-gene (S2G) linking …

Interpreting type 1 diabetes risk with genetics and single-cell epigenomics

J Chiou, RJ Geusz, ML Okino, JY Han, M Miller… - Nature, 2021 - nature.com
Genetic risk variants that have been identified in genome-wide association studies of
complex diseases are primarily non-coding. Translating these risk variants into mechanistic …

Advancing the use of genome-wide association studies for drug repurposing

WR Reay, MJ Cairns - Nature Reviews Genetics, 2021 - nature.com
Genome-wide association studies (GWAS) have revealed important biological insights into
complex diseases, which are broadly expected to lead to the identification of new drug …