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Article

Characterizing allele- and haplotype-specific copy numbers in single cells with CHISEL.

Nature biotechnology - 1 Feb 2021

Zaccaria Simone, Raphael Benjamin J

Abstract excerpt

Single-cell barcoding technologies enable genome sequencing of thousands of individual cells in parallel, but with extremely low sequencing coverage (<0.05×) per cell. While the total copy number of large multi-megabase segments can be derived from such data, important allele-specific mutations-such as copy-neutral loss of heterozygosity (LOH) in cancer-are missed. We introduce copy-number haplotype inference in...

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Identifiers

PMID: 32879467
DOI: 10.1038/s41587-020-0661-6
PMCID: PMC9876616

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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