[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 …

[HTML][HTML] A genome-wide association study based on the China Kadoorie Biobank identifies genetic associations between snoring and cardiometabolic traits

Y Zhu, Z Zhuang, J Lv, D Sun, P Pei, L Yang… - Communications …, 2024 - nature.com
Despite the high prevalence of snoring in Asia, little is known about the genetic etiology of
snoring and its causal relationships with cardiometabolic traits. Based on 100,626 Chinese …

[PDF][PDF] Tissue-specific and tissue-agnostic effects of genome sequence variation modulating blood pressure

D Lee, SK Han, O Yaacov, H Berk-Rauch… - Cell reports, 2023 - cell.com
Genome-wide association studies (GWASs) have identified numerous variants associated
with polygenic traits and diseases. However, with few exceptions, a mechanistic …

[PDF][PDF] A cross-ancestry genome-wide meta-analysis, fine-mapping, and gene prioritization approach to characterize the genetic architecture of adiponectin

V Sarsani, SM Brotman, Y Xianyong, LF Silva… - Human Genetics and …, 2024 - cell.com
Previous genome-wide association studies (GWASs) for adiponectin, a complex trait linked
to type 2 diabetes and obesity, identified> 20 associated loci. However, most loci were …

[HTML][HTML] Colocalization of expression transcripts with COVID-19 outcomes is rare across cell states, cell types and organs

JDS Willett, T Lu, T Nakanishi, S Yoshiji… - Human Genetics, 2023 - Springer
Identifying causal genes at GWAS loci can help pinpoint targets for therapeutic interventions.
Expression studies can disentangle such loci but signals from expression quantitative trait …

Assessing efficiency of fine-mapping obesity-associated variants through leveraging ancestry architecture and functional annotation using PAGE and UKBB cohorts

MY Anwar, M Graff, HM Highland, R Smit, Z Wang… - Human genetics, 2023 - Springer
Inadequate representation of non-European ancestry populations in genome-wide
association studies (GWAS) has limited opportunities to isolate functional variants. Fine …

[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 …

Extensive co-regulation of neighbouring genes complicates the use of eQTLs in target gene prioritisation

R Tambets, A Kolde, P Kolberg, MI Love, K Alasoo - bioRxiv, 2023 - biorxiv.org
Identifying causal genes underlying genome-wide association studies (GWAS) is a
fundamental problem in human genetics. Although colocalisation with gene expression …

Genetics of skeletal proportions in two different populations

E Bartell, K Lin, K Tsuo, W Gan, S Vedantam, JB Cole… - bioRxiv, 2023 - biorxiv.org
Human height can be divided into sitting height and leg length, reflecting growth of different
parts of the skeleton whose relative proportions are captured by the ratio of sitting to total …

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 …