2023
DOI: 10.1101/2023.02.20.529175
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Tracing cancer evolution and heterogeneity using Hi-C

Abstract: Chromosomal rearrangements can initiate and drive cancer progression, yet it has been challenging to evaluate their impact, especially in genetically heterogeneous solid cancers. To address this problem we developed HiDENSEC, a new computational framework for analyzing chromatin conformation capture in heterogeneous samples, which can infer somatic copy number alterations, characterize large-scale chromosomal rearrangements, and estimate cancer cell fractions. We validated HiDENSEC with in silico and in vitro … Show more

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“…Complex chromosomal rearrangements within the genome characterize many human cancers due to defects in DSBR pathways. Re-arrangements can also lead to the development and the evolution of existing tumors (56)(57)(58)(59). To better define the role of Rad54 in mitigating genomic rearrangements, we sought to identify and characterize amino acid substitutions in Rad54 from human cancers that slowed down its translocation activity.…”
Section: Introductionmentioning
confidence: 99%
“…Complex chromosomal rearrangements within the genome characterize many human cancers due to defects in DSBR pathways. Re-arrangements can also lead to the development and the evolution of existing tumors (56)(57)(58)(59). To better define the role of Rad54 in mitigating genomic rearrangements, we sought to identify and characterize amino acid substitutions in Rad54 from human cancers that slowed down its translocation activity.…”
Section: Introductionmentioning
confidence: 99%