Article
AIVariant: a deep learning-based somatic variant detector for highly contaminated tumor samples.
Experimental & molecular medicine - 1 Aug 2023
Jeon Hyeonseong, Ahn Junhak, Na Byunggook, Hong Soona, Sael Lee, Kim Sun, Yoon Sungroh, Baek Daehyun
Abstract excerpt
The detection of somatic DNA variants in tumor samples with low tumor purity or sequencing depth remains a daunting challenge despite numerous attempts to address this problem. In this study, we constructed a substantially extended set of actual positive variants originating from a wide range of tumor purities and sequencing depths, as well as actual negative variants derived from sequencer-specific sequencing...
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