Diagnostic Cancer Genome Sequencing and the Contribution of Germline Variants

The genetic landscape of high-risk neuroblastoma

(2013) Trevor J Pugh et al.   NATURE GENETICS

Comparative Effectiveness and Cost-Effectiveness of Screening Colonoscopy vs. Sigmoidoscopy and Alternative Strategies

(2012) Ravi N Sharaf et al.   AMERICAN JOURNAL OF GASTROENTEROLOGY

Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes

(2012) Jennifer J. Johnston et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Characterization of Gene-Environment Interactions for Colorectal Cancer Susceptibility Loci

(2012) C. M. Hutter et al.   CANCER RESEARCH

A Landscape of Driver Mutations in Melanoma

(2012) Eran Hodis et al.   CELL

The Origin and Evolution of Mutations in Acute Myeloid Leukemia

(2012) John S. Welch et al.   CELL

Investigation of the effects of DNA repair gene polymorphisms on the risk of colorectal cancer

(2012) Ian P. M. Tomlinson et al.   MUTAGENESIS

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

(2012)   NATURE

Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk

(2012) Malcolm G Dunlop et al.   NATURE GENETICS

The Pediatric Cancer Genome Project

(2012) James R Downing et al.   NATURE GENETICS

Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas

(2012) Claire Palles et al.   NATURE GENETICS

Next-generation sequencing data interpretation: enhancing reproducibility and accessibility

(2012) Anton Nekrutenko et al.   NATURE REVIEWS GENETICS

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Whole exome sequencing of pediatric gastric adenocarcinoma reveals an atypical presentation of Li-Fraumeni syndrome

(2012) Vivian Y. Chang et al.   PEDIATRIC BLOOD & CANCER

A public resource facilitating clinical use of genomes

(2012) Madeleine P. Ball et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mice Lacking a Myc Enhancer That Includes Human SNP rs6983267 Are Resistant to Intestinal Tumors

(2012) I. K. Sur et al.   SCIENCE

Genome Sequencing Identifies a Basis for Everolimus Sensitivity

(2012) G. Iyer et al.   SCIENCE

Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units

(2012) C. J. Saunders et al.   Science Translational Medicine

Comprehensive Evaluation of the Impact of 14 Genetic Variants on Colorectal Cancer Phenotype and Risk

(2011) S. J. Lubbe et al.   AMERICAN JOURNAL OF EPIDEMIOLOGY

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS)

(2011) Noralane M. Lindor et al.   HUMAN MUTATION

Identification of a Novel TP53 Cancer Susceptibility Mutation Through Whole-Genome Sequencing of a Patient With Therapy-Related AML

(2011) Daniel C. Link   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

The impact of next-generation sequencing on genomics

(2011) Jun Zhang et al.   Journal of Genetics and Genomics

Evaluation of next-generation sequencing software in mapping and assembly

(2011) Suying Bao et al.   JOURNAL OF HUMAN GENETICS

Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial

(2011) John Burn et al.   LANCET

Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

(2011) Iñaki Comino-Méndez et al.   NATURE GENETICS

The 14q22.2 colorectal cancer variant rs4444235 shows cis-acting regulation of BMP4

(2011) S J Lubbe et al.   ONCOGENE

Exploring the Genomes of Cancer Cells: Progress and Promise

(2011) M. R. Stratton   SCIENCE

ATM Mutations in Patients with Hereditary Pancreatic Cancer

(2011) Nicholas J. Roberts et al.   Cancer Discovery

Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

(2010) Minji Byun et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Allelic Variation at the 8q23.3 Colorectal Cancer Risk Locus Functions as a Cis-Acting Regulator of EIF3H

(2010) Alan M. Pittman et al.   PLoS Genetics

Calculation of Risk of Colorectal and Endometrial Cancer Among Patients With Lynch Syndrome

(2009) Elena Stoffel et al.   GASTROENTEROLOGY

The colorectal cancer risk at 18q21 is caused by a novel variant altering SMAD7 expression

(2009) A. M. Pittman et al.   GENOME RESEARCH

Exome sequencing takes centre stage in cancer profiling

(2009) Brendan Maher   NATURE

Exomic Sequencing Identifies PALB2 as a Pancreatic Cancer Susceptibility Gene

(2009) S. Jones et al.   SCIENCE

DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome

(2008) Timothy J. Ley et al.   NATURE