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Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2023.03.09.531877v1?rss=1
Authors: Rheinnecker, M., Froehlich, M., Ruebsam, M., Paramasivam, N., Heilig, C. E., Froehling, S., Schlenk, R. F., Hutter, B., Huebschmann, D.
Abstract: ZygosityPredictor provides functionality to evaluate how many copies of a gene are affected by mutations in next generation sequencing data. In cancer samples, both somatic and germline mutations are accurately processed. In particular, ZygosityPredictor computes the number of affected copies - also referred to as cancer cell fraction - for single nucleotide variants and small insertions and deletions (Indels). In addition, the tool integrates information at gene level by performing haplotype phasing and subsequent logic. This information is of particular interest in precision oncology, e.g. when assessing whether unmutated copies of tumor-suppressor genes remain.
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