Understanding the function of regulatory DNA interactions in the interpretation of non-coding GWAS variants

W Zhong, W Liu, J Chen, Q Sun, M Hu… - Frontiers in cell and …, 2022 - frontiersin.org
Genome-wide association studies (GWAS) have identified a vast number of variants
associated with various complex human diseases and traits. However, most of these GWAS …

Transcriptome-wide association study in UK Biobank Europeans identifies associations with blood cell traits

B Rowland, S Venkatesh, M Tardaguila… - Human Molecular …, 2022 - academic.oup.com
Previous genome-wide association studies (GWAS) of hematological traits have identified
over 10 000 distinct trait-specific risk loci. However, at these loci, the underlying causal …

[HTML][HTML] Improved multi-ancestry fine-mapping identifies cis-regulatory variants underlying molecular traits and disease risk

Z Lu, X Wang, M Carr, A Kim, S Gazal, P Mohammadi… - medRxiv, 2024 - ncbi.nlm.nih.gov
Multi-ancestry statistical fine-mapping of cis-molecular quantitative trait loci (cis-molQTL)
aims to improve the precision of distinguishing causal cis-molQTLs from tagging variants …

Gene-Level Germline Investigation of Breast Cancer Subtypes and Mortality Among Women of European and African Ancestry

AP Patel - 2022 - search.proquest.com
Genome-wide investigations to date have uncovered over 210 germline variants associated
with BC incidence, and only a handful of mostly non-replicable variants associated with BC …