谷歌浏览器插件
订阅小程序
在清言上使用

ZygosityPredictor

Bioinformatics Advances(2024)

引用 2|浏览47
暂无评分
摘要
Summary ZygosityPredictor provides functionality to evaluate how many copies of a gene are affected by mutations in next generation sequencing data. In cancer samples, the tool processes both somatic and germline mutations. In particular, ZygosityPredictor computes the number of affected copies for single nucleotide variants and small insertions and deletions (Indels). In addition, the tool integrates information at gene level via phasing of several variants and subsequent logic to derive how strongly a gene is affected by mutations and provides a measure of confidence. This information is of particular interest in precision oncology, e.g. when assessing whether unmutated copies of tumor-suppressor genes remain. Availability and implementation ZygosityPredictor was implemented as an R-package and is available via Bioconductor at . Detailed documentation is provided in the vignette including application to an example genome. ### Competing Interest Statement The authors have declared no competing interest.
更多
查看译文
AI 理解论文
溯源树
样例
生成溯源树,研究论文发展脉络
Chat Paper
正在生成论文摘要