Article

Establishment of reference standards for multifaceted mosaic variant analysis

2021-08-31

Abstract excerpt

Detection of somatic mosaicism in non-proliferative cells is a new challenge in genome research, however, the accuracy of current detection strategies remains uncertain due to the lack of a ground truth. Herein, we sought to present a set of reference standards based on a total of 386,613 mosaic single-nucleotide variants (SNVs) and insertion-deletion mutations (INDELs) with variant allele frequencies (VAFs) rangi...

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Literature Corpus work: c8832017-3df5-5015-bf7a-9311bfcd238f
DOI: 10.1101/2021.08.31.458343

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