Article

Influences of rare copy number variation on human complex traits

2021-10-21

Abstract excerpt

The human genome contains hundreds of thousands of regions exhibiting copy number variation (CNV). However, the phenotypic effects of most such polymorphisms are unknown because only larger CNVs (spanning tens of kilobases) have been ascertainable from the SNP-array data generated by large biobanks. We developed a new computational approach that leverages abundant haplotype-sharing in biobank cohorts to more sensi...

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Literature Corpus work: d14980fa-c1d6-5a27-86d8-a542d9e4ff48
DOI: 10.1101/2021.10.21.465308

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