Article

Whole-genome sequencing analysis of copy number variation (CNV) using low-coverage and paired-end strategies is efficient and outperforms array-based CNV analysis

2017-11-04

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> CNV analysis is an integral component to the study of human genomes in both research and clinical settings. Array-based CNV analysis is the current first-tier approach in clinical cytogenetics. Decreasing costs in high-throughput sequencing and cloud computing have opened doors for the development of sequencing-based CNV analysis pipelines with fast turnaround times. We carr...

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Literature Corpus work: 664346f0-f99f-5e1c-895f-a4761901b63f
DOI: 10.1101/192310

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