Article

Systematic and comprehensive benchmarking of an exome sequencing based germline copy-number analysis pipeline to detect clinically relevant CNVs

2019-03-16

Abstract excerpt

<h4>Purpose</h4> Detecting germline copy-number variants (CNVs) from exome sequencing (ES) is not a standard practice in clinical settings owing to several reasons concerning performance. We comprehensively characterized an ES-based CNV pipeline and developed frameworks for minimizing false-positives and assess the reproducibility. <h4>Methods</h4> We used a cohort of 387 individuals with both clinical chromosom...

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Literature Corpus work: be12ca17-9684-5d5e-9803-88d3f6bbdbdb
DOI: 10.1101/579755

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