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Article

Comprehensive functional annotation of susceptibility variants associated with asthma.

Human genetics - 1 Aug 2020

Gautam Yadu, Afanador Yashira, Ghandikota Sudhir, Mersha Tesfaye B

Abstract excerpt

Genome-wide association studies (GWAS) have identified hundreds of primarily non-coding disease-susceptibility variants that further need functional interpretation to prioritize and discriminate the disease-relevant variants. We present a comprehensive genome-wide non-coding variant prioritization scheme followed by validation using Pyrosequencing and TaqMan assays in asthma. We implemented a composite Functional...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32240371
DOI: 10.1007/s00439-020-02151-5
PMCID: PMC7415519

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