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Article

Regional Variation of Splicing QTLs in Human Brain.

American journal of human genetics - 6 Aug 2020

Zhang Yida, Yang Harry Taegyun, Kadash-Edmondson Kathryn, Pan Yang, Pan Zhicheng, Davidson Beverly L, Xing Yi

Abstract excerpt

A major question in human genetics is how sequence variants of broadly expressed genes produce tissue- and cell type-specific molecular phenotypes. Genetic variation of alternative splicing is a prevalent source of transcriptomic and proteomic diversity in human populations. We investigated splicing quantitative trait loci (sQTLs) in 1,209 samples from 13 human brain regions, using RNA sequencing (RNA-seq) and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32589925
DOI: 10.1016/j.ajhg.2020.06.002
PMCID: PMC7413857

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