[HTML][HTML] Fast and flexible joint fine-mapping of multiple traits via the Sum of Single Effects model

Y Zou, P Carbonetto, D Xie, G Wang, M Stephens - bioRxiv, 2023 - ncbi.nlm.nih.gov
We introduce mvSuSiE, a multi-trait fine-mapping method for identifying putative causal
variants from genetic association data (individual-level or summary data). mvSuSiE learns …

Multi-ancestry genome-wide association study of major depression aids locus discovery, fine mapping, gene prioritization and causal inference

X Meng, G Navoly, O Giannakopoulou, DF Levey… - Nature Genetics, 2024 - nature.com
Most genome-wide association studies (GWAS) of major depression (MD) have been
conducted in samples of European ancestry. Here we report a multi-ancestry GWAS of MD …

[PDF][PDF] Polygenic prediction across populations is influenced by ancestry, genetic architecture, and methodology

Y Wang, M Kanai, T Tan, M Kamariza, K Tsuo, K Yuan… - Cell Genomics, 2023 - cell.com
Polygenic risk scores (PRSs) developed from multi-ancestry genome-wide association
studies (GWASs), PRS multi, hold promise for improving PRS accuracy and generalizability …

sfkit: a web-based toolkit for secure and federated genomic analysis

S Mendelsohn, D Froelicher, D Loginov… - Nucleic Acids …, 2023 - academic.oup.com
Advances in genomics are increasingly depending upon the ability to analyze large and
diverse genomic data collections, which are often difficult to amass due to privacy concerns …

[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 …

East Asian-specific and cross-ancestry genome-wide meta-analyses provide mechanistic insights into peptic ulcer disease

Y He, M Koido, Y Sutoh, M Shi, Y Otsuka-Yamasaki… - Nature Genetics, 2023 - nature.com
Peptic ulcer disease (PUD) refers to acid-induced injury of the digestive tract, occurring
mainly in the stomach (gastric ulcer (GU)) or duodenum (duodenal ulcer (DU)). In the …

A scalable approach to characterize pleiotropy across thousands of human diseases and complex traits using GWAS summary statistics

Z Zhang, J Jung, A Kim, N Suboc, S Gazal… - The American Journal of …, 2023 - cell.com
Genome-wide association studies (GWASs) across thousands of traits have revealed the
pervasive pleiotropy of trait-associated genetic variants. While methods have been …

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 …

Identification of 27 allele-specific regulatory variants in Parkinson's disease using a massively parallel reporter assay

SL Farrow, S Gokuladhas, W Schierding… - npj Parkinson's …, 2024 - nature.com
Genome wide association studies (GWAS) have identified a number of genomic loci that are
associated with Parkinson's disease (PD) risk. However, the majority of these variants lie in …

Secure and federated genome-wide association studies for Biobank-scale datasets

H Cho, D Froelicher, J Chen, M Edupalli, A Pyrgelis… - bioRxiv, 2022 - biorxiv.org
Sharing data across multiple institutions for genome-wide association studies (GWAS)
would enable discovery of novel genetic variants linked to health and disease. However …