Article
Whole genome DNA and RNA sequencing of whole blood elucidates the genetic architecture of gene expression underlying a wide range of diseases.
Scientific reports - 23 Nov 2022
Liu Chunyu, Joehanes Roby, Ma Jiantao, Wang Yuxuan, Sun Xianbang, Keshawarz Amena, Sooda Meera, Huan Tianxiao, Hwang Shih-Jen, Bui Helena, Tejada Brandon, Munson Peter J, Demirkale Cumhur Y, Heard-Costa Nancy L, Pitsillides Achilleas N, Peloso Gina M, Feolo Michael, Sharopova Nataliya, Vasan Ramachandran S, Levy Daniel
Abstract excerpt
To create a scientific resource of expression quantitative trail loci (eQTL), we conducted a genome-wide association study (GWAS) using genotypes obtained from whole genome sequencing (WGS) of DNA and gene expression levels from RNA sequencing (RNA-seq) of whole blood in 2622 participants in Framingham Heart Study. We identified 6,778,286 cis-eQTL variant-gene transcript (eGene) pairs at p < 5 × 10-8 (2,855,111...
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