Methods for copy number aberration detection from single-cell DNA-sequencing data

XF Mallory, M Edrisi, N Navin, L Nakhleh - Genome biology, 2020 - Springer
Copy number aberrations (CNAs), which are pathogenic copy number variations (CNVs),
play an important role in the initiation and progression of cancer. Single-cell DNA …

cfDNA methylome profiling for detection and subtyping of small cell lung cancers

F Chemi, SP Pearce, A Clipson, SM Hill, AM Conway… - Nature cancer, 2022 - nature.com
Small cell lung cancer (SCLC) is characterized by morphologic, epigenetic and
transcriptomic heterogeneity. Subtypes based upon predominant transcription factor …

Chemoresistance evolution in triple-negative breast cancer delineated by single-cell sequencing

C Kim, R Gao, E Sei, R Brandt, J Hartman, T Hatschek… - Cell, 2018 - cell.com
Triple-negative breast cancer (TNBC) is an aggressive subtype that frequently develops
resistance to chemotherapy. An unresolved question is whether resistance is caused by the …

[HTML][HTML] Single-cell genomic variation induced by mutational processes in cancer

T Funnell, CH O'Flanagan, MJ Williams, A McPherson… - Nature, 2022 - nature.com
How cell-to-cell copy number alterations that underpin genomic instability in human cancers
drive genomic and phenotypic variation, and consequently the evolution of cancer, remains …

[HTML][HTML] Multiclonal invasion in breast tumors identified by topographic single cell sequencing

AK Casasent, A Schalck, R Gao, E Sei, A Long… - Cell, 2018 - cell.com
Ductal carcinoma in situ (DCIS) is an early-stage breast cancer that infrequently progresses
to invasive ductal carcinoma (IDC). Genomic evolution has been difficult to delineate during …

Bioinformatics analysis for circulating cell-free DNA in cancer

CC Huang, M Du, L Wang - Cancers, 2019 - mdpi.com
Molecular analysis of cell-free DNA (cfDNA) that circulates in plasma and other body fluids
represents a “liquid biopsy” approach for non-invasive cancer screening or monitoring. The …

DeLTA: Automated cell segmentation, tracking, and lineage reconstruction using deep learning

JB Lugagne, H Lin, MJ Dunlop - PLoS computational biology, 2020 - journals.plos.org
Microscopy image analysis is a major bottleneck in quantification of single-cell microscopy
data, typically requiring human oversight and curation, which limit both accuracy and …

Divergent clonal selection dominates medulloblastoma at recurrence

AS Morrissy, L Garzia, DJH Shih, S Zuyderduyn… - Nature, 2016 - nature.com
The development of targeted anti-cancer therapies through the study of cancer genomes is
intended to increase survival rates and decrease treatment-related toxicity. We treated a …

Somatic mutations altering EZH2 (Tyr641) in follicular and diffuse large B-cell lymphomas of germinal-center origin

RD Morin, NA Johnson, TM Severson, AJ Mungall… - Nature …, 2010 - nature.com
Follicular lymphoma (FL) and the GCB subtype of diffuse large B-cell lymphoma (DLBCL)
derive from germinal center B cells. Targeted resequencing studies have revealed mutations …

MHC class II transactivator CIITA is a recurrent gene fusion partner in lymphoid cancers

C Steidl, SP Shah, BW Woolcock, L Rui, M Kawahara… - Nature, 2011 - nature.com
Chromosomal translocations are critically involved in the molecular pathogenesis of B-cell
lymphomas, and highly recurrent and specific rearrangements have defined distinct …