A practical guide to cancer subclonal reconstruction from DNA sequencing

M Tarabichi, A Salcedo, AG Deshwar… - Nature …, 2021 - nature.com
Subclonal reconstruction from bulk tumor DNA sequencing has become a pillar of cancer
evolution studies, providing insight into the clonality and relative ordering of mutations and …

Structural variations in cancer and the 3D genome

F Dubois, N Sidiropoulos, J Weischenfeldt… - Nature Reviews …, 2022 - nature.com
Structural variations (SVs) affect more of the cancer genome than any other type of somatic
genetic alteration but difficulties in detecting and interpreting them have limited our …

[HTML][HTML] Ovarian cancer mutational processes drive site-specific immune evasion

I Vázquez-García, F Uhlitz, N Ceglia, JLP Lim, M Wu… - Nature, 2022 - nature.com
High-grade serous ovarian cancer (HGSOC) is an archetypal cancer of genomic instability,,–
patterned by distinct mutational processes,, tumour heterogeneity,–and intraperitoneal …

Most large structural variants in cancer genomes can be detected without long reads

ZN Choo, JM Behr, A Deshpande, K Hadi, X Yao… - Nature Genetics, 2023 - nature.com
Short-read sequencing is the workhorse of cancer genomics yet is thought to miss many
structural variants (SVs), particularly large chromosomal alterations. To characterize missing …

[HTML][HTML] Distinct classes of complex structural variation uncovered across thousands of cancer genome graphs

K Hadi, X Yao, JM Behr, A Deshpande… - Cell, 2020 - cell.com
Cancer genomes often harbor hundreds of somatic DNA rearrangement junctions, many of
which cannot be easily classified into simple (eg, deletion) or complex (eg, chromothripsis) …

Interfaces of malignant and immunologic clonal dynamics in ovarian cancer

AW Zhang, A McPherson, K Milne, DR Kroeger… - Cell, 2018 - cell.com
High-grade serous ovarian cancer (HGSC) exhibits extensive malignant clonal diversity with
widespread but non-random patterns of disease dissemination. We investigated whether …

Clonal decomposition and DNA replication states defined by scaled single-cell genome sequencing

E Laks, A McPherson, H Zahn, D Lai, A Steif, J Brimhall… - Cell, 2019 - cell.com
Accurate measurement of clonal genotypes, mutational processes, and replication states
from individual tumor-cell genomes will facilitate improved understanding of tumor evolution …

Characterizing allele-and haplotype-specific copy numbers in single cells with CHISEL

S Zaccaria, BJ Raphael - Nature biotechnology, 2021 - nature.com
Single-cell barcoding technologies enable genome sequencing of thousands of individual
cells in parallel, but with extremely low sequencing coverage (< 0.05×) per cell. While the …

Exploring the landscape of focal amplifications in cancer using AmpliconArchitect

V Deshpande, J Luebeck, NPD Nguyen… - Nature …, 2019 - nature.com
Focal oncogene amplification and rearrangements drive tumor growth and evolution in
multiple cancer types. We present AmpliconArchitect (AA), a tool to reconstruct the fine …

Clonal somatic copy number altered driver events inform drug sensitivity in high-grade serous ovarian cancer

FC Martins, DL Couturier, I De Santiago… - Nature …, 2022 - nature.com
Chromosomal instability is a major challenge to patient stratification and targeted drug
development for high-grade serous ovarian carcinoma (HGSOC). Here we show that …