[HTML][HTML] A compendium of genetic regulatory effects across pig tissues

J Teng, Y Gao, H Yin, Z Bai, S Liu, H Zeng… - Nature Genetics, 2024 - nature.com
Abstract The Farm Animal Genotype-Tissue Expression (FarmGTEx) project has been
established to develop a public resource of genetic regulatory variants in livestock, which is …

[HTML][HTML] Identification of constrained sequence elements across 239 primate genomes

LFK Kuderna, JC Ulirsch, S Rashid, M Ameen… - Nature, 2024 - nature.com
Noncoding DNA is central to our understanding of human gene regulation and complex
diseases,, and measuring the evolutionary sequence constraint can establish the functional …

[HTML][HTML] Fine-mapping across diverse ancestries drives the discovery of putative causal variants underlying human complex traits and diseases

K Yuan, RJ Longchamps, AF Pardiñas, M Yu, TT Chen… - medRxiv, 2023 - ncbi.nlm.nih.gov
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 …

[HTML][HTML] Nuclear genetic control of mtDNA copy number and heteroplasmy in humans

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 …

A Bayesian fine-mapping model using a continuous global-local shrinkage prior with applications in prostate cancer analysis

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 …

[HTML][HTML] XMAP: Cross-population fine-mapping by leveraging genetic diversity and accounting for confounding bias

M Cai, Z Wang, J Xiao, X Hu, G Chen… - Nature Communications, 2023 - nature.com
Fine-mapping prioritizes risk variants identified by genome-wide association studies
(GWASs), serving as a critical step to uncover biological mechanisms underlying complex …

MultiSuSiE improves multi-ancestry fine-mapping in All of Us whole-genome sequencing data

J Rossen, H Shi, BJ Strober, MJ Zhang, M Kanai… - medRxiv, 2024 - medrxiv.org
Leveraging data from multiple ancestries can greatly improve fine-mapping power due to
differences in linkage disequilibrium and allele frequencies. We propose MultiSuSiE, an …

[HTML][HTML] Fine-mapping causal tissues and genes at disease-associated loci

BJ Strober, MJ Zhang, T Amariuta, J Rossen, AL Price - medRxiv, 2023 - ncbi.nlm.nih.gov
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 …

A novel bayesian fine-mapping model using a continuous global-local shrinkage prior with applications in prostate cancer analysis

X Li, PC Sham, YD Zhang - medRxiv, 2023 - medrxiv.org
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 …

Genetic fine-mapping from summary data using a nonlocal prior improves the detection of multiple causal variants

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 …