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Article

A pan-cancer landscape of somatic mutations in non-unique regions of the human genome.

Nature biotechnology - 1 Dec 2021

Tarabichi Maxime, Demeulemeester Jonas, Verfaillie Annelien, Flanagan Adrienne M, Van Loo Peter, Konopka Tomasz

Abstract excerpt

A substantial fraction of the human genome displays high sequence similarity with at least one other genomic sequence, posing a challenge for the identification of somatic mutations from short-read sequencing data. Here we annotate genomic variants in 2,658 cancers from the Pan-Cancer Analysis of Whole Genomes (PCAWG) cohort with links to similar sites across the human genome. We train a machine learning model to...

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Identifiers

PMID: 34282324
DOI: 10.1038/s41587-021-00971-y
PMCID: PMC7612106

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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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