Hotspots of Human Mutation

Analyses of non-coding somatic drivers in 2,658 cancer whole genomes

(2020) Esther Rheinbay et al.   NATURE

Pan-cancer analysis of whole genomes

(2020)   NATURE

The repertoire of mutational signatures in human cancer

(2020) Ludmil B. Alexandrov et al.   NATURE

Patterns of somatic structural variation in human cancer genomes

(2020) Yilong Li et al.   NATURE

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

(2020) Isidro Cortés-Ciriano et al.   NATURE GENETICS

A structural variation reference for medical and population genetics

(2020) Ryan L. Collins et al.   NATURE

GPSeq reveals the radial organization of chromatin in the cell nucleus

(2020) Gabriele Girelli et al.   NATURE BIOTECHNOLOGY

Mechanisms generating cancer genome complexity from a single cell division error

(2020) Neil T. Umbreit et al.   SCIENCE

APOBEC3-dependent kataegis and TREX1-driven chromothripsis during telomere crisis

(2020) John Maciejowski et al.   NATURE GENETICS

3D genome organization contributes to genome instability at fragile sites

(2020) Dan Sarni et al.   Nature Communications

Extrachromosomal DNA is associated with oncogene amplification and poor outcome across multiple cancers

(2020) Hoon Kim et al.   NATURE GENETICS

Capmatinib in MET Exon 14–Mutated or MET-Amplified Non–Small-Cell Lung Cancer

(2020) Jürgen Wolf et al.   NEW ENGLAND JOURNAL OF MEDICINE

Insights into the Link between the Organization of DNA Replication and the Mutational Landscape

(2019) Julia Gaboriaud et al.   Genes

Replication timing and epigenome remodelling are associated with the nature of chromosomal rearrangements in cancer

(2019) Qian Du et al.   Nature Communications

Chromosomal breakpoints in a cohort of head and neck squamous cell carcinoma patients

(2019) I.P. Ribeiro et al.   GENOMICS

Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2

(2019) Christine R. Beck et al.   CELL

Quantifying Microsatellite Mutation Rates from Intestinal Stem Cell Dynamics in Msh2-deficient Murine Epithelium

(2019) Joseph Christopher et al.   GENETICS

Mutation hotspots may not be drug targets

(2019) Hannah Carter   SCIENCE

Passenger hotspot mutations in cancer driven by APOBEC3A and mesoscale genomic features

(2019) Rémi Buisson et al.   SCIENCE

Context is everything: aneuploidy in cancer

(2019) Uri Ben-David et al.   NATURE REVIEWS GENETICS

Repair of base damage within break-induced replication intermediates promotes kataegis associated with chromosome rearrangements

(2019) Rajula Elango et al.   NUCLEIC ACIDS RESEARCH

Repair of multiple simultaneous double-strand breaks causes bursts of genome-wide clustered hypermutation

(2019) Cynthia J. Sakofsky et al.   PLOS BIOLOGY

Large, three-generation human families reveal post-zygotic mosaicism and variability in germline mutation accumulation

(2019) Thomas A Sasani et al.   eLife

The clinical KRAS(G12C) inhibitor AMG 510 drives anti-tumour immunity

(2019) Jude Canon et al.   NATURE

Micronuclei-based model system reveals functional consequences of chromothripsis in human cells

(2019) Maja Kneissig et al.   eLife

1000 human genomes carry widespread signatures of GC biased gene conversion

(2018) Rajib Dutta et al.   BMC GENOMICS

Predicting human genes susceptible to genomic instability associated withAlu/Alu-mediated rearrangements

(2018) Xiaofei Song et al.   GENOME RESEARCH

Genome doubling shapes the evolution and prognosis of advanced cancers

(2018) Craig M. Bielski et al.   NATURE GENETICS

Germline DNA replication timing shapes mammalian genome composition

(2018) Yishai Yehuda et al.   NUCLEIC ACIDS RESEARCH

R-loop generation during transcription: Formation, processing and cellular outcomes

(2018) Boris P. Belotserkovskii et al.   DNA REPAIR

Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations

(2018) Po-Ru Loh et al.   NATURE

The dark side of centromeres: types, causes and consequences of structural abnormalities implicating centromeric DNA

(2018) V. Barra et al.   Nature Communications

Telomeres in cancer: tumour suppression and genome instability

(2017) John Maciejowski et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

DNA methylation of intragenic CpG islands depends on their transcriptional activity during differentiation and disease

(2017) Danuta M. Jeziorska et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Long Neural Genes Harbor Recurrent DNA Break Clusters in Neural Stem/Progenitor Cells

(2016) Pei-Chi Wei et al.   CELL

Chromothripsis and Kataegis Induced by Telomere Crisis

(2015) John Maciejowski et al.   CELL

Quantification of GC-biased gene conversion in the human genome

(2015) Sylvain Glémin et al.   GENOME RESEARCH

Chromothripsis from DNA damage in micronuclei

(2015) Cheng-Zhong Zhang et al.   NATURE

The origins, determinants, and consequences of human mutations

(2015) J. Shendure et al.   SCIENCE

Biased Gene Conversion Skews Allele Frequencies in Human Populations, Increasing the Disease Burden of Recessive Alleles

(2014) Joseph Lachance et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic Variation in Human DNA Replication Timing

(2014) Amnon Koren et al.   CELL

A 3D Map of the Human Genome at Kilobase Resolution Reveals Principles of Chromatin Looping

(2014) Suhas S.P. Rao et al.   CELL

Large transcription units unify copy number variants and common fragile sites arising under replication stress

(2014) Thomas E. Wilson et al.   GENOME RESEARCH

Primate evolution of the recombination regulator PRDM9

(2014) Jerrod J. Schwartz et al.   Nature Communications

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

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

The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes

(2013) S. B. Montgomery et al.   GENOME RESEARCH

APOBEC3B is an enzymatic source of mutation in breast cancer

(2013) Michael B. Burns et al.   NATURE

Migrating bubble during break-induced replication drives conservative DNA synthesis

(2013) Natalie Saini et al.   NATURE

Mutational heterogeneity in cancer and the search for new cancer-associated genes

(2013) Michael S. Lawrence et al.   NATURE

Signatures of mutational processes in human cancer

(2013) Ludmil B. Alexandrov et al.   NATURE

Effect of nuclear architecture on the efficiency of double-strand break repair

(2013) Neta Agmon et al.   NATURE CELL BIOLOGY

Replicative mechanisms for CNV formation are error prone

(2013) Claudia M B Carvalho et al.   NATURE GENETICS

Evidence for APOBEC3B mutagenesis in multiple human cancers

(2013) Michael B Burns et al.   NATURE GENETICS

An APOBEC cytidine deaminase mutagenesis pattern is widespread in human cancers

(2013) Steven A Roberts et al.   NATURE GENETICS

Two sequential cleavage reactions on cruciform DNA structures cause palindrome-mediated chromosomal translocations

(2013) Hidehito Inagaki et al.   Nature Communications

Mutation Rates, Spectra, and Genome-Wide Distribution of Spontaneous Mutations in Mismatch Repair Deficient Yeast

(2013) Gregory I. Lang et al.   G3-Genes Genomes Genetics

Differential Relationship of DNA Replication Timing to Different Forms of Human Mutation and Variation

(2012) Amnon Koren et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Whole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation

(2012) Jacob J. Michaelson et al.   CELL

Mutational Processes Molding the Genomes of 21 Breast Cancers

(2012) Serena Nik-Zainal et al.   CELL

Chromosomal translocations and palindromic AT-rich repeats

(2012) Takema Kato et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

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

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

Clustered Mutations in Yeast and in Human Cancers Can Arise from Damaged Long Single-Strand DNA Regions

(2012) Steven A. Roberts et al.   MOLECULAR CELL

A telomere-dependent DNA damage checkpoint induced by prolonged mitotic arrest

(2012) Makoto T Hayashi et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

DNA replication timing and selection shape the landscape of nucleotide variation in cancer genomes

(2012) Yong H Woo et al.   Nature Communications

Localization of centromeric breaks in head and neck squamous cell carcinoma

(2012) Jorge García Martínez et al.   Cancer Genetics

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

(2011) Philip J. Stephens et al.   CELL

Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements

(2011) Yue Luo et al.   HUMAN MOLECULAR GENETICS

DNA replication timing and long-range DNA interactions predict mutational landscapes of cancer genomes

(2011) Subhajyoti De et al.   NATURE BIOTECHNOLOGY

A non-canonical DNA structure is a binding motif for the transcription factor SP1 in vitro

(2011) Eun-Ang Raiber et al.   NUCLEIC ACIDS RESEARCH

Clinical efficacy of a RAF inhibitor needs broad target blockade in BRAF-mutant melanoma

(2010) Gideon Bollag et al.   NATURE

PRDM9 variation strongly influences recombination hot-spot activity and meiotic instability in humans

(2010) Ingrid L Berg et al.   NATURE GENETICS

PRDM9 Is a Major Determinant of Meiotic Recombination Hotspots in Humans and Mice

(2010) F. Baudat et al.   SCIENCE

Biased Gene Conversion and the Evolution of Mammalian Genomic Landscapes

(2009) Laurent Duret et al.   Annual Review of Genomics and Human Genetics

Origins and functional impact of copy number variation in the human genome

(2009) Donald F. Conrad et al.   NATURE

The cancer genome

(2009) Michael R. Stratton et al.   NATURE