Article

Profiling copy number variation and disease associations from 50,726 DiscovEHR Study exomes

2017-03-22

Abstract excerpt

Copy number variants (CNVs) are a substantial source of genomic variation and contribute to a wide range of human disorders. Gene-disrupting exonic CNVs have important clinical implications as they can underlie variability in disease presentation and susceptibility. The relationship between exonic CNVs and clinical traits has not been broadly explored at the population level, primarily due to technical challenges....

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Literature Corpus work: 104b5ca9-80c5-58b1-99bc-fd70b8699b95
DOI: 10.1101/119461

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