CNV Radar: an improved method for somatic copy number alteration characterization in oncology.

ABSTRACT:

Background

Cancer associated copy number variation (CNV) events provide important information for identifying patient subgroups and suggesting treatment strategies. Technical and logistical issues, however, make it challenging to accurately detect abnormal copy number events in a cost-effective manner in clinical studies.

Results

Here we present CNV Radar, a software tool that utilizes next-generation sequencing read depth information and variant allele frequency patterns, to infer the true copy number status of genes and genomic regions from whole exome sequencing data. Evaluation of CNV Radar in a public multiple myeloma dataset demonstrated that CNV Radar was able to detect a variety of CNVs associated with risk of progression, and we observed > 70% concordance with fluor

SUBMITTER: Soong D 

PROVIDER: S-EPMC7060549 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature