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High Detection Rate of Copy Number Variations Using Capture Sequencing Data: A Retrospective Study

6 Jan 2020

Abstract excerpt

BACKGROUND: Capture sequencing (CS) is widely applied to detect small genetic variations such as single nucleotide variants or indels. Algorithms based on depth comparison are becoming available for detecting copy number variation (CNV) from CS data. However, a systematic evaluation with a large sample size has not been conducted to evaluate the efficacy of CS-based CNV detection in clinical diagnosis. METHODS:...

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PMID: 32031585
DOI: 10.1093/clinchem/hvz033

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