CNAViz: An interactive webtool for user-guided segmentation of tumor DNA sequencing data.

ABSTRACT: Copy-number aberrations (CNAs) are genetic alterations that amplify or delete the number of copies of large genomic segments. Although they are ubiquitous in cancer and, thus, a critical area of current cancer research, CNA identification from DNA sequencing data is challenging because it requires partitioning of the genome into complex segments with the same copy-number states that may not be contiguous. Existing segmentation algorithms address these challenges either by leveraging the local information among neighboring genomic regions, or by globally grouping genomic regions that are affected by similar CNAs across the entire genome. However, both approaches have limitations: overclustering in the case of local segmentation, or the omission of clusters corresponding to focal CNAs in the

SUBMITTER: Lalani Z 

PROVIDER: S-EPMC9595559 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature