Shenjie Wang, Xiaoyan Zhu, Xuwen Wang, Yuqian Liu, Minchao Zhao, Zhili Chang, Xiaonan Wang, Yang Shao, Jiayin Wang
In cancer genomics, variant calling has advanced, but traditional mean accuracy evaluations are inadequate for biomarkers like tumor mutation burden, which vary significantly across samples, affecting immunotherapy patient selection and threshold settings. In this study, we introduce TMBstable, an innovative method that dynamically selects optimal variant calling strategies for specific genomic regions using a meta-learning framework, distinguishing it from traditional callers with uniform sample-wide strategies...
March 27, 2024: Briefings in Bioinformatics