Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples

The Sequence Alignment/Map format and SAMtools

2009 • 54,537 citations

Fast and accurate short read alignment with Burrows–Wheeler transform

2009 • 51,582 citations

A framework for variation discovery and genotyping using next-generation DNA sequencing data

2011 • 10,899 citations

A map of human genome variation from population-scale sequencing

2010 • 7,765 citations

Comprehensive molecular characterization of human colon and rectal cancer

2012 • 7,615 citations

Comprehensive genomic characterization defines human glioblastoma genes and core pathways

2008 • 7,243 citations

Integrated genomic analyses of ovarian carcinoma

2011 • 7,228 citations

dbSNP: the NCBI database of genetic variation

2001 • 6,995 citations

Table S2: Trans-factors and trinucleotide repeat instability Trans-factor

2010 • 5,471 citations

Comprehensive genomic characterization of squamous cell lung cancers

2012 • 3,654 citations

Somatic mutations affect key pathways in lung adenocarcinoma

2008 • 2,653 citations

Tumour evolution inferred by single-cell sequencing

2011 • 2,478 citations

A Landscape of Driver Mutations in Melanoma

2012 • 2,449 citations

Distant metastasis occurs late during the genetic evolution of pancreatic cancer

2010 • 2,359 citations

The Mutational Landscape of Head and Neck Squamous Cell Carcinoma

2011 • 2,358 citations

COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer

2010 • 2,249 citations

International network of cancer genome projects

2010 • 2,233 citations

Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing

2012 • 1,931 citations

Absolute quantification of somatic DNA alterations in human cancer

2012 • 1,898 citations

Mapping the Hallmarks of Lung Adenocarcinoma with Massively Parallel Sequencing

2012 • 1,734 citations

A comprehensive catalogue of somatic mutations from a human cancer genome

2009 • 1,668 citations

High-quality draft assemblies of mammalian genomes from massively parallel sequence data

2010 • 1,579 citations

Strelka: accurate somatic small-variant calling from sequenced tumor–normal sample pairs

2012 • 1,545 citations

Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancer

2012 • 1,433 citations

Initial genome sequencing and analysis of multiple myeloma

2011 • 1,394 citations

The Life History of 21 Breast Cancers

2012 • 1,380 citations

Evolution and Impact of Subclonal Mutations in Chronic Lymphocytic Leukemia

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The patterns and dynamics of genomic instability in metastatic pancreatic cancer

2010 • 1,302 citations

The genomic complexity of primary human prostate cancer

2011 • 1,209 citations

Sequence analysis of mutations and translocations across breast cancer subtypes

2012 • 1,154 citations

Mutational evolution in a lobular breast tumour profiled at single nucleotide resolution

2009 • 1,060 citations

SF3B1and Other Novel Cancer Genes in Chronic Lymphocytic Leukemia

2011 • 1,041 citations

Discovery and prioritization of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by whole-exome sequencing

2012 • 930 citations

Clonal Architecture of Secondary Acute Myeloid Leukemia

2012 • 748 citations

Melanoma genome sequencing reveals frequent PREX2 mutations

2012 • 734 citations

Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations

2012 • 725 citations

Single-Cell Exome Sequencing Reveals Single-Nucleotide Mutation Characteristics of a Kidney Tumor

2012 • 650 citations

SomaticSniper: identification of somatic point mutations in whole genome sequencing data

2011 • 623 citations

Single-Cell Exome Sequencing and Monoclonal Evolution of a JAK2-Negative Myeloproliferative Neoplasm

2012 • 523 citations

A remarkably simple genome underlies highly malignant pediatric rhabdoid cancers

2012 • 388 citations

Mutations in isocitrate dehydrogenase 1 and 2 occur frequently in intrahepatic cholangiocarcinomas and share hypermethylation targets with glioblastomas

2012 • 353 citations

Cellular and genetic diversity in the progression of in situ human breast carcinomas to an invasive phenotype

2010 • 326 citations

Genomic sequencing of colorectal adenocarcinomas identifies a recurrent VTI1A-TCF7L2 fusion

2011 • 308 citations

ContEst: estimating cross-contamination of human samples in next-generation sequencing data

2011 • 279 citations

Temporal Dissection of Tumorigenesis in Primary Cancers

2011 • 269 citations

JointSNVMix: a probabilistic model for accurate detection of somatic mutations in normal/tumour paired next-generation sequencing data

2012 • 176 citations

CD24−/low stem-like breast cancer marker defines the radiation-resistant cells involved in memorization and transmission of radiation-induced genomic instability

2012 • 31 citations