Noncoding DNA is central to our understanding of human gene regulation and complex diseases,, and measuring the evolutionary sequence constraint can establish the functional …
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 …
R Gupta, M Kanai, TJ Durham, K Tsuo, JG McCoy… - Nature, 2023 - nature.com
Mitochondrial DNA (mtDNA) is a maternally inherited, high-copy-number genome required for oxidative phosphorylation. Heteroplasmy refers to the presence of a mixture of mtDNA …
X Li, PC Sham, YD Zhang - The American Journal of Human Genetics, 2024 - cell.com
The aim of fine mapping is to identify genetic variants causally contributing to complex traits or diseases. Existing fine-mapping methods employ Bayesian discrete mixture priors and …
Fine-mapping prioritizes risk variants identified by genome-wide association studies (GWASs), serving as a critical step to uncover biological mechanisms underlying complex …
Leveraging data from multiple ancestries can greatly improve fine-mapping power due to differences in linkage disequilibrium and allele frequencies. We propose MultiSuSiE, an …
Heritable diseases often manifest in a highly tissue-specific manner, with different disease loci mediated by genes in distinct tissues or cell types. We propose Tissue-Gene Fine …
The aim of fine-mapping is to identify genetic variants causally contributing to complex traits or diseases. Existing fine-mapping methods employ discrete Bayesian mixture priors and …
V Karhunen, I Launonen, MR Järvelin, S Sebert… - …, 2023 - academic.oup.com
Motivation Genome-wide association studies (GWAS) have been successful in identifying genomic loci associated with complex traits. Genetic fine-mapping aims to detect …