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Allele-specific genomic data elucidate the role of somatic gain and copy-number neutral loss of heterozygosity in cancer.

Cell systems - 16 Feb 2022

Ciani Yari, Fedrizzi Tarcisio, Prandi Davide, Lorenzin Francesca, Locallo Alessio, Gasperini Paola, Franceschini Gian Marco, Benelli Matteo, Elemento Olivier, Fava Luca L, Inga Alberto, Demichelis Francesca

Abstract excerpt

Pan-cancer studies sketched the genomic landscape of the tumor types spectrum. We delineated the purity- and ploidy-adjusted allele-specific profiles of 4,950 patients across 27 tumor types from the Cancer Genome Atlas (TCGA). Leveraging allele-specific data, we reclassified as loss of heterozygosity (LOH) 9% and 7% of apparent copy-number wild-type and gain calls, respectively, and overall observed more than 18...

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PMID: 34731645
DOI: 10.1016/j.cels.2021.10.001
PMCID: PMC8856743

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