CODEX2: full-spectrum copy number variation detection by high-throughput DNA sequencing.
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ABSTRACT:
SUBMITTER: Jiang Y
PROVIDER: S-EPMC6260772 | biostudies-literature | 2018 Nov
REPOSITORIES: biostudies-literature
Publications
CODEX2: full-spectrum copy number variation detection by high-throughput DNA sequencing.
Jiang Yuchao Y Wang Rujin R Urrutia Eugene E Anastopoulos Ioannis N IN Nathanson Katherine L KL Zhang Nancy R NR
Genome biology 20181126 1
High-throughput DNA sequencing enables detection of copy number variations (CNVs) on the genome-wide scale with finer resolution compared to array-based methods but suffers from biases and artifacts that lead to false discoveries and low sensitivity. We describe CODEX2, as a statistical framework for full-spectrum CNV profiling that is sensitive for variants with both common and rare population frequencies and that is applicable to study designs with and without negative control samples. We demo ...[more]
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