CONSERTING: integrating copy-number analysis with structural-variation detection.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 25938371.
- Also identified by DOI 10.1038/nmeth.3394 and PMC identifier 4591043.
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Abstract
We developed Copy Number Segmentation by Regression Tree in Next Generation Sequencing (CONSERTING), an algorithm for detecting somatic copy-number alteration (CNA) using whole-genome sequencing (WGS) data. CONSERTING performs iterative analysis of segmentation on the basis of changes in read depth and the detection of localized structural variations, with high accuracy and sensitivity. Analysis of 43 cancer genomes from both pediatric and adult patients revealed novel oncogenic CNAs, complex rearrangements and subclonal CNAs missed by alternative approaches.
Medical subject headings
- DNA
- DNA Copy Number Variations
- Genomics
- Neoplasms
- Software