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Updated: Jul 28, 2025

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RFcaller:一种机器学习方法与读取级别功能相结合,用于检测体质突变.

Ander Díaz-Navarro1, Pablo Bousquets-Muñoz1, Ferran Nadeu2,3

  • 1Departamento de Bioquímica y Biología Molecular, Instituto Universitario de Oncología (IUOPA), Universidad de Oviedo, 33006 Oviedo, Spain.

NAR genomics and bioinformatics
|June 1, 2023
PubMed
概括

RFcaller是一款用于准确检测癌症体质突变的机器学习管道. 它有效地识别了其他方法遗漏的驱动基因突变,帮助临床诊断.

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Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
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