Article

DeepMosaic: Control-independent mosaic single nucleotide variant detection using deep convolutional neural networks

2020-11-16

Abstract excerpt

<h4>Introductory paragraph</h4> Mosaic variants (MVs) reflect mutagenic processes during embryonic development 1 and environmental exposure 2 , accumulate with aging, and underlie diseases such as cancer and autism 3 . The detection of MVs has been computationally challenging due to sparse representation in non-clonally expanded tissues. While heuristic filters and tools trained on clonally expanded MVs with h...

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Literature Corpus work: 77995ab5-885a-582d-a628-3ed24b1ac5e3
DOI: 10.1101/2020.11.14.382473

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