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Article

The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases.

BMC medical genomics - 1 Apr 2022

Alsheikh Ammar J, Wollenhaupt Sabrina, King Emily A, Reeb Jonas, Ghosh Sujana, Stolzenburg Lindsay R, Tamim Saleh, Lazar Jozef, Davis J Wade, Jacob Howard J

Abstract excerpt

BACKGROUND: The remarkable growth of genome-wide association studies (GWAS) has created a critical need to experimentally validate the disease-associated variants, 90% of which involve non-coding variants. METHODS: To determine how the field is addressing this urgent need, we performed a comprehensive literature review identifying 36,676 articles. These were reduced to 1454 articles through a set of filters using...

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Identifiers

PMID: 35365203
DOI: 10.1186/s12920-022-01216-w
PMCID: PMC8973751

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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