Inferring structural variant cancer cell fraction

M Cmero, K Yuan, CS Ong, J Schröder… - Nature …, 2020 - nature.com
We present SVclone, a computational method for inferring the cancer cell fraction of
structural variant (SV) breakpoints from whole-genome sequencing data. SVclone …

Assessing reliability of intra-tumor heterogeneity estimates from single sample whole exome sequencing data

J Abécassis, AS Hamy, C Laurent, B Sadacca… - PloS one, 2019 - journals.plos.org
Tumors are made of evolving and heterogeneous populations of cells which arise from
successive appearance and expansion of subclonal populations, following acquisition of …

CloneSig can jointly infer intra-tumor heterogeneity and mutational signature activity in bulk tumor sequencing data

J Abécassis, F Reyal, JP Vert - Nature communications, 2021 - nature.com
Systematic DNA sequencing of cancer samples has highlighted the importance of two
aspects of cancer genomics: intra-tumor heterogeneity (ITH) and mutational processes …

Model-based tumor subclonal reconstruction

G Caravagna, T Heide, M Williams, L Zapata, D Nichol… - BioRxiv, 2019 - biorxiv.org
The vast majority of cancer next-generation sequencing data consist of bulk samples
composed of mixtures of cancer and normal cells. To study tumor evolution, subclonal …

The inter and intra-tumoural heterogeneity of subclonal reconstruction

V Bhandari, LY Liu, A Salcedo, SMG Espiritu… - bioRxiv, 2018 - biorxiv.org
Background Each tumour is a community of cells related through a common ancestry. Each
cell in this community faces a slightly different set of selective pressures, and evolves at least …

CloneSig: joint inference of intra-tumor heterogeneity and mutational signatures' activity in tumor bulk sequencing data

J Abécassis, F Reyal, JP Vert - bioRxiv, 2019 - biorxiv.org
The possibility to sequence DNA in cancer samples has triggered much effort recently to
identify the forces at the genomic level that shape tumorigenesis and cancer progression. It …

Statistical methods for deciphering intra-tumor hereterogeneity: challenges and opportunities for cancer clinical management

J Abecassis - 2020 - pastel.hal.science
Accessing the repertoire of cancer somatic alterations has been instrumental in our current
understanding of carcinogenesis. However, efforts in genomic characterization of cancers …