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MONTAGE: a new tool for high-throughput detection of mosaic copy number variation.

BMC genomics - 24 Feb 2021

Glessner Joseph T, Chang Xiao, Liu Yichuan, Li Jin, Khan Munir, Wei Zhi, Sleiman Patrick M A, Hakonarson Hakon

Abstract excerpt

BACKGROUND: Not all cells in a given individual are identical in their genomic makeup. Mosaicism describes such a phenomenon where a mixture of genotypic states in certain genomic segments exists within the same individual. Mosaicism is a prevalent and impactful class of non-integer state copy number variation (CNV). Mosaicism implies that certain cell types or subset of cells contain a CNV in a segment of the...

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PMID: 33627065
DOI: 10.1186/s12864-021-07395-7
PMCID: PMC7905641

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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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