A Weighted Estimation Approach to Correct for Imperfect Mutation Detection Due to Intra-tumor Heterogeneity in Tumor Sequencing
Somatic mutations in sequenced tumors are often detected with imperfect sensitivity. They can be missed because tumor heterogeneity results in some mutations being absent in a sample at hand or present at very low frequencies which, combined with technical limitations like insufficient sequencing depth, reduces their detectability. It becomes apparent with multi-regional sequencing that some…
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