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

2022-01-28

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 studie...

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Literature Corpus work
ea628746-31cb-5aa7-9e96-a154135da0c7
DOI
10.1101/2022.01.26.22269891
Open publication

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A phenome-wide association study identifies effects of copy number variation of VNTRs and multicopy genes on multiple human traitsDOI 10.1101/2022.01.26.22269891
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