Somatic mutation phasing and haplotype extension using linked-reads in multiple myeloma.


Journal

bioRxiv : the preprint server for biology
ISSN: 2692-8205
Titre abrégé: bioRxiv
Pays: United States
ID NLM: 101680187

Informations de publication

Date de publication:
10 Aug 2024
Historique:
medline: 16 8 2024
pubmed: 16 8 2024
entrez: 16 8 2024
Statut: epublish

Résumé

Somatic mutation phasing informs our understanding of cancer-related events, like driver mutations. We generated linked-read whole genome sequencing data for 23 samples across disease stages from 14 multiple myeloma (MM) patients and systematically assigned somatic mutations to haplotypes using linked-reads. Here, we report the reconstructed cancer haplotypes and phase blocks from several MM samples and show how phase block length can be extended by integrating samples from the same individual. We also uncover phasing information in genes frequently mutated in MM, including

Identifiants

pubmed: 39149342
doi: 10.1101/2024.08.09.607342
pmc: PMC11326269
pii:
doi:

Types de publication

Journal Article Preprint

Langues

eng

Auteurs

Classifications MeSH