Molecular quantitative trait loci

F Aguet, K Alasoo, YI Li, A Battle, HK Im… - Nature Reviews …, 2023 - nature.com
Understanding functional effects of genetic variants is one of the key challenges in human
genetics, as much of disease-associated variation is located in non-coding regions with …

[PDF][PDF] Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease

W Zhou, M Kanai, KHH Wu, H Rasheed, K Tsuo… - Cell Genomics, 2022 - cell.com
Biobanks facilitate genome-wide association studies (GWASs), which have mapped
genomic loci across a range of human diseases and traits. However, most biobanks are …

[HTML][HTML] GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19

E Pairo-Castineira, K Rawlik, AD Bretherick, T Qi, Y Wu… - Nature, 2023 - nature.com
Critical illness in COVID-19 is an extreme and clinically homogeneous disease phenotype
that we have previously shown to be highly efficient for discovery of genetic associations …

Genetic architecture of the inflammatory bowel diseases across East Asian and European ancestries

Z Liu, R Liu, H Gao, S Jung, X Gao, R Sun, X Liu… - Nature …, 2023 - nature.com
Inflammatory bowel diseases (IBDs) are chronic disorders of the gastrointestinal tract with
the following two subtypes: Crohn's disease (CD) and ulcerative colitis (UC). To date, most …

[HTML][HTML] Fine-mapping from summary data with the “Sum of Single Effects” model

Y Zou, P Carbonetto, G Wang, M Stephens - PLoS Genetics, 2022 - journals.plos.org
In recent work, Wang et al introduced the “Sum of Single Effects”(SuSiE) model, and showed
that it provides a simple and efficient approach to fine-mapping genetic variants from …

CARMA is a new Bayesian model for fine-mapping in genome-wide association meta-analyses

Z Yang, C Wang, L Liu, A Khan, A Lee, B Vardarajan… - Nature Genetics, 2023 - nature.com
Fine-mapping is commonly used to identify putative causal variants at genome-wide
significant loci. Here we propose a Bayesian model for fine-mapping that has several …

Cross-ancestry genome-wide association meta-analyses of hippocampal and subfield volumes

N Liu, L Zhang, T Tian, J Cheng, B Zhang, S Qiu… - Nature Genetics, 2023 - nature.com
The hippocampus is critical for memory and cognition and neuropsychiatric disorders, and
its subfields differ in architecture and function. Genome-wide association studies on …

Extremely sparse models of linkage disequilibrium in ancestrally diverse association studies

P Salehi Nowbandegani, AW Wohns, JL Ballard… - Nature Genetics, 2023 - nature.com
Linkage disequilibrium (LD) is the correlation among nearby genetic variants. In genetic
association studies, LD is often modeled using large correlation matrices, but this approach …

Improving fine-mapping by modeling infinitesimal effects

R Cui, RA Elzur, M Kanai, JC Ulirsch, O Weissbrod… - Nature Genetics, 2024 - nature.com
Fine-mapping aims to identify causal genetic variants for phenotypes. Bayesian fine-
mapping algorithms (for example, SuSiE, FINEMAP, ABF and COJO-ABF) are widely used …

[PDF][PDF] Loci for insulin processing and secretion provide insight into type 2 diabetes risk

KA Broadaway, X Yin, A Williamson, VA Parsons… - The American Journal of …, 2023 - cell.com
Insulin secretion is critical for glucose homeostasis, and increased levels of the precursor
proinsulin relative to insulin indicate pancreatic islet beta-cell stress and insufficient insulin …