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Article

Establishment of reference standards for multifaceted mosaic variant analysis.

Scientific data - 3 Feb 2022

Ha Yoo-Jin, Oh Myung Joon, Kim Junhan, Kim Jisoo, Kang Seungseok, Minna John D, Kim Hyun Seok, Kim Sangwoo

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 ultra-deep sequenced WES data based on reference standards generated by cell line mixtures, providing a total of 386,613 mosaic single-nucleotide variants (SNVs) and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 35115554
DOI: 10.1038/s41597-022-01133-8
PMCID: PMC8813952

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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