CINmetrics: an R package for analyzing copy number aberrations as a measure of chromosomal instability.

PeerJ

Department of Cell, Developmental and Integrative Biology, University of Alabama - Birmingham, Birmingham, AL, United States of America.

Published: May 2023

Genomic instability is an important hallmark of cancer and more recently has been identified in others like neurodegenrative diseases. Chromosomal instability, as a measure of genomic instability, has been used to characterize clinical and biological phenotypes associated with these diseases by measuring structural and numerical chromosomal alterations. There have been multiple chromosomal instability scores developed across many studies in the literature; however, these scores have not been compared because of the lack of a single tool available to calculate and facilitate these various metrics. Here, we provide an R package CINmetrics, that calculates six different chromosomal instability scores and allows direct comparison between them. We also demonstrate how these scores differ by applying CINmetrics to breast cancer data from The Cancer Genome Atlas (TCGA). The package is available on CRAN at https://cran.rproject.org/package=CINmetrics and on GitHub at https://github.com/lasseignelab/CINmetrics.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10143595PMC
http://dx.doi.org/10.7717/peerj.15244DOI Listing

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