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Article

A phenome-wide association study identifies effects of copy-number variation of VNTRs and multicopy genes on multiple human traits.

American journal of human genetics - 2 Jun 2022

Garg Paras, Jadhav Bharati, Lee William, Rodriguez Oscar L, Martin-Trujillo Alejandro, Sharp Andrew J

Abstract excerpt

The human genome contains tens of thousands of large tandem repeats and hundreds of genes that show common and highly variable copy-number changes. Due to their large size and repetitive nature, these variable number tandem repeats (VNTRs) and multicopy genes are generally recalcitrant to standard genotyping approaches and, as a result, this class of variation is poorly characterized. However, several recent...

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PMID: 35609568
DOI: 10.1016/j.ajhg.2022.04.016
PMCID: PMC9247821

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