A somatic reference standard for cancer genome sequencing

Validation of a Next-Generation–Sequencing Cancer Panel for Use in the Clinical Laboratory

(2015) Birgitte B. Simen et al.   ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE

Unified representation of genetic variants

(2015) Adrian Tan et al.   BIOINFORMATICS

Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications

(2015) Xiaoyu Chen et al.   BIOINFORMATICS

Genomic Classification of Cutaneous Melanoma

(2015) Rehan Akbani et al.   CELL

Systematic Screening of Promoter Regions Pinpoints Functional Cis-Regulatory Mutations in a Cutaneous Melanoma Genome

(2015) R. C. Poulos et al.   MOLECULAR CANCER RESEARCH

Clinical Validation of KRAS, BRAF, and EGFR Mutation Detection Using Next-Generation Sequencing

(2014) Ming-Tseh Lin et al.   AMERICAN JOURNAL OF CLINICAL PATHOLOGY

Comparison of somatic mutation calling methods in amplicon and whole exome sequence data

(2014) Huilei Xu et al.   BMC GENOMICS

Analytical validation of whole exome and whole genome sequencing for clinical applications

(2014) Michael D Linderman et al.   BMC Medical Genomics

Analysis of the BRAF V600E mutation in primary cutaneous melanoma

(2014) J.S.S. Inumaru et al.   GENETICS AND MOLECULAR RESEARCH

Melanomas of unknown primary frequently harbor TERT-promoter mutations

(2014) Friederike Egberts et al.   MELANOMA RESEARCH

Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls

(2014) Justin M Zook et al.   NATURE BIOTECHNOLOGY

COSMIC: exploring the world's knowledge of somatic mutations in human cancer

(2014) Simon A. Forbes et al.   NUCLEIC ACIDS RESEARCH

Ensembl 2015

(2014) Fiona Cunningham et al.   NUCLEIC ACIDS RESEARCH

UV Signature Mutations

(2014) Douglas E. Brash   PHOTOCHEMISTRY AND PHOTOBIOLOGY

TERT promoter mutations in primary and secondary glioblastomas

(2013) Naosuke Nonoguchi et al.   ACTA NEUROPATHOLOGICA

Distribution of TERT promoter mutations in pediatric and adult tumors of the nervous system

(2013) Christian Koelsche et al.   ACTA NEUROPATHOLOGICA

TERT promoter mutations are highly recurrent in SHH subgroup medulloblastoma

(2013) Marc Remke et al.   ACTA NEUROPATHOLOGICA

Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms

(2013) Come Raczy et al.   BIOINFORMATICS

Identification of somatic mutations in cancer through Bayesian-based analysis of sequenced genome pairs

(2013) Alexis Christoforides et al.   BMC GENOMICS

Clinical Validation of a Next-Generation Sequencing Screen for Mutational Hotspots in 46 Cancer-Related Genes

(2013) Rajesh R. Singh et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Signatures of mutational processes in human cancer

(2013) Ludmil B. Alexandrov et al.   NATURE

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

(2013) Kristian Cibulskis et al.   NATURE BIOTECHNOLOGY

Long insert whole genome sequencing for copy number variant and translocation detection

(2013) Winnie S. Liang et al.   NUCLEIC ACIDS RESEARCH

TERT promoter mutations occur frequently in gliomas and a subset of tumors derived from cells with low rates of self-renewal

(2013) P. J. Killela et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Highly Recurrent TERT Promoter Mutations in Human Melanoma

(2013) F. W. Huang et al.   SCIENCE

Detecting somatic point mutations in cancer genome sequencing data: a comparison of mutation callers

(2013) Qingguo Wang et al.   Genome Medicine

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

(2012) Christopher T. Saunders et al.   BIOINFORMATICS

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Base-calling for next-generation sequencing platforms

(2011) C. Ledergerber et al.   BRIEFINGS IN BIOINFORMATICS

Evaluation of genomic high-throughput sequencing data generated on Illumina HiSeq and Genome Analyzer systems

(2011) André E Minoche et al.   GENOME BIOLOGY

CNAseg—a novel framework for identification of copy number changes in cancer from second-generation sequencing data

(2010) Sergii Ivakhno et al.   BIOINFORMATICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Evolution of an adenocarcinoma in response to selection by targeted kinase inhibitors

(2010) Steven JM Jones et al.   GENOME BIOLOGY

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

A comprehensive catalogue of somatic mutations from a human cancer genome

(2009) Erin D. Pleasance et al.   NATURE