Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing

Pan-cancer analysis of whole genomes

(2020)   NATURE

The evolutionary history of 2,658 cancers

(2020) Moritz Gerstung et al.   NATURE

Patterns of somatic structural variation in human cancer genomes

(2020) Yilong Li et al.   NATURE

Structural variation in the sequencing era

(2019) Steve S. Ho et al.   NATURE REVIEWS GENETICS

Timing the Landmark Events in the Evolution of Clear Cell Renal Cell Cancer: TRACERx Renal

(2018) Thomas J. Mitchell et al.   CELL

The landscape of genomic alterations across childhood cancers

(2018) Susanne N. Gröbner et al.   NATURE

Integrative genomic and transcriptomic analysis of leiomyosarcoma

(2018) Priya Chudasama et al.   Nature Communications

Pan-cancer genome and transcriptome analyses of 1,699 paediatric leukaemias and solid tumours

(2018) Xiaotu Ma et al.   NATURE

Genomic hallmarks of localized, non-indolent prostate cancer

(2017) Michael Fraser et al.   NATURE

Tumor aneuploidy correlates with markers of immune evasion and with reduced response to immunotherapy

(2017) Teresa Davoli et al.   SCIENCE

Recurrent mutation of IGF signalling genes and distinct patterns of genomic rearrangement in osteosarcoma

(2017) Sam Behjati et al.   Nature Communications

A molecular portrait of microsatellite instability across multiple cancers

(2017) Isidro Cortes-Ciriano et al.   Nature Communications

Essential Roles for Polymerase θ-Mediated End Joining in the Repair of Chromosome Breaks

(2016) David W. Wyatt et al.   MOLECULAR CELL

A renewed model of pancreatic cancer evolution based on genomic rearrangement patterns

(2016) Faiyaz Notta et al.   NATURE

Selective Y centromere inactivation triggers chromosome shattering in micronuclei and repair by non-homologous end joining

(2016) Peter Ly et al.   NATURE CELL BIOLOGY

COSMIC: somatic cancer genetics at high-resolution

(2016) Simon A. Forbes et al.   NUCLEIC ACIDS RESEARCH

Chromothripsis: A New Mechanism for Rapid Karyotype Evolution

(2015) Mitchell L. Leibowitz et al.   Annual Review of Genetics

Chromothripsis and Kataegis Induced by Telomere Crisis

(2015) John Maciejowski et al.   CELL

Genomic Classification of Cutaneous Melanoma

(2015) Rehan Akbani et al.   CELL

A cell-based model system links chromothripsis with hyperploidy

(2015) B. R. Mardin et al.   Molecular Systems Biology

Chromothripsis from DNA damage in micronuclei

(2015) Cheng-Zhong Zhang et al.   NATURE

Catastrophic chromosomal restructuring during genome elimination in plants

(2015) Ek Han Tan et al.   eLife

ShatterProof: operational detection and quantification of chromothripsis

(2014) Shaylan K Govind et al.   BMC BIOINFORMATICS

The Somatic Genomic Landscape of Chromophobe Renal Cell Carcinoma

(2014) Caleb F. Davis et al.   CANCER CELL

The Architecture and Evolution of Cancer Neochromosomes

(2014) Dale W. Garsed et al.   CANCER CELL

Constitutional and somatic rearrangement of chromosome 21 in acute lymphoblastic leukaemia

(2014) Yilong Li et al.   NATURE

Genomic catastrophes frequently arise in esophageal adenocarcinoma and drive tumorigenesis

(2014) Katia Nones et al.   Nature Communications

EGFR Variant Heterogeneity in Glioblastoma Resolved through Single-Nucleus Sequencing

(2014) J. M. Francis et al.   Cancer Discovery

Tolerance of Whole-Genome Doubling Propagates Chromosomal Instability and Accelerates Cancer Genome Evolution

(2014) S. M. Dewhurst et al.   Cancer Discovery

Break-Induced Replication Is a Source of Mutation Clusters Underlying Kataegis

(2014) Cynthia J. Sakofsky et al.   Cell Reports

Double Minute Chromosomes in Glioblastoma Multiforme Are Revealed by Precise Reconstruction of Oncogenic Amplicons

(2013) J. Z. Sanborn et al.   CANCER RESEARCH

Diverse Mechanisms of Somatic Structural Variations in Human Cancer Genomes

(2013) Lixing Yang et al.   CELL

Criteria for Inference of Chromothripsis in Cancer Genomes

(2013) Jan O. Korbel et al.   CELL

Cumulative Haploinsufficiency and Triplosensitivity Drive Aneuploidy Patterns and Shape the Cancer Genome

(2013) Teresa Davoli et al.   CELL

Pan-cancer patterns of somatic copy number alteration

(2013) Travis I Zack et al.   NATURE GENETICS

An APOBEC cytidine deaminase mutagenesis pattern is widespread in human cancers

(2013) Steven A Roberts et al.   NATURE GENETICS

IntOGen-mutations identifies cancer drivers across tumor types

(2013) Abel Gonzalez-Perez et al.   NATURE METHODS

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

Genome Sequencing of Pediatric Medulloblastoma Links Catastrophic DNA Rearrangements with TP53 Mutations

(2012) Tobias Rausch et al.   CELL

Mutational Processes Molding the Genomes of 21 Breast Cancers

(2012) Serena Nik-Zainal et al.   CELL

Functional genomic analysis of chromosomal aberrations in a compendium of 8000 cancer genomes

(2012) T.-M. Kim et al.   GENOME RESEARCH

Linking abnormal mitosis to the acquisition of DNA damage

(2012) Neil J. Ganem et al.   JOURNAL OF CELL BIOLOGY

A DNA Repair Pathway–Focused Score for Prediction of Outcomes in Ovarian Cancer Treated With Platinum-Based Chemotherapy

(2012) Josephine Kang et al.   JNCI-Journal of the National Cancer Institute

DNA breaks and chromosome pulverization from errors in mitosis

(2012) Karen Crasta et al.   NATURE

Sequencing of neuroblastoma identifies chromothripsis and defects in neuritogenesis genes

(2012) Jan J. Molenaar et al.   NATURE

Recurrent Hemizygous Deletions in Cancers May Optimize Proliferative Potential

(2012) N. L. Solimini et al.   SCIENCE

Constitutional Chromothripsis Rearrangements Involve Clustered Double-Stranded DNA Breaks and Nonhomologous Repair Mechanisms

(2012) Wigard P. Kloosterman et al.   Cell Reports

Massive Genomic Rearrangement Acquired in a Single Catastrophic Event during Cancer Development

(2011) Philip J. Stephens et al.   CELL

Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements

(2011) Pengfei Liu et al.   CELL

RAF gene fusion breakpoints in pediatric brain tumors are characterized by significant enrichment of sequence microhomology

(2011) A. R. J. Lawson et al.   GENOME RESEARCH

Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline†

(2011) Wigard P. Kloosterman et al.   HUMAN MOLECULAR GENETICS

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

A Human Genome Structural Variation Sequencing Resource Reveals Insights into Mutational Mechanisms

(2010) Jeffrey M. Kidd et al.   CELL

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

TopHat: discovering splice junctions with RNA-Seq

(2009) Cole Trapnell et al.   BIOINFORMATICS

Mechanisms of change in gene copy number

(2009) P. J. Hastings et al.   NATURE REVIEWS GENETICS

Multipolar Spindle Pole Coalescence Is a Major Source of Kinetochore Mis-Attachment and Chromosome Mis-Segregation in Cancer Cells

(2009) William T. Silkworth et al.   PLoS One

A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation

(2009) P. J. Hastings et al.   PLoS Genetics