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Article

Control-independent mosaic single nucleotide variant detection with DeepMosaic.

Nature biotechnology - 1 Jun 2023

Yang Xiaoxu, Xu Xin, Breuss Martin W, Antaki Danny, Ball Laurel L, Chung Changuk, Shen Jiawei, Li Chen, George Renee D, Wang Yifan, Bae Taejeong, Cheng Yuhe, Abyzov Alexej, Wei Liping, Alexandrov Ludmil B, Sebat Jonathan L, Gleeson Joseph G

Abstract excerpt

Mosaic variants (MVs) reflect mutagenic processes during embryonic development and environmental exposure, accumulate with aging and underlie diseases such as cancer and autism. The detection of noncancer MVs has been computationally challenging due to the sparse representation of nonclonally expanded MVs. Here we present DeepMosaic, combining an image-based visualization module for single nucleotide MVs and a...

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PMID: 36593400
DOI: 10.1038/s41587-022-01559-w
PMCID: PMC10314968

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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