The Use of Non-Variant Sites to Improve the Clinical Assessment of Whole-Genome Sequence Data

How important are rare variants in common disease?

(2014) A. Saint Pierre et al.   Briefings in Functional Genomics

Targeted therapy by combined inhibition of the RAF and mTOR kinases in malignant spindle cell neoplasm harboring the KIAA1549-BRAF fusion protein

(2014) Vivek Subbiah et al.   Journal of Hematology & Oncology

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

(2014) Justin M Zook et al.   NATURE BIOTECHNOLOGY

Reducing INDEL calling errors in whole genome and exome sequencing data

(2014) Han Fang et al.   Genome Medicine

Navigating the Rapids: The Development of Regulated Next-Generation Sequencing-Based Clinical Trial Assays and Companion Diagnostics

(2014) Saumya Pant et al.   Frontiers in Oncology

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

(2013) Come Raczy et al.   BIOINFORMATICS

Development and validation of a clinical cancer genomic profiling test based on massively parallel DNA sequencing

(2013) Garrett M Frampton et al.   NATURE BIOTECHNOLOGY

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

(2013) Connie R Bezzina et al.   NATURE GENETICS

Discovery and refinement of loci associated with lipid levels

(2013) Cristen J Willer et al.   NATURE GENETICS

Implementing personalized cancer genomics in clinical trials

(2013) Richard Simon et al.   NATURE REVIEWS DRUG DISCOVERY

Disease-targeted sequencing: a cornerstone in the clinic

(2013) Heidi L. Rehm   NATURE REVIEWS GENETICS

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

The NHGRI GWAS Catalog, a curated resource of SNP-trait associations

(2013) Danielle Welter et al.   NUCLEIC ACIDS RESEARCH

Response to Cabozantinib in Patients with RET Fusion-Positive Lung Adenocarcinomas

(2013) Alexander Drilon et al.   Cancer Discovery

Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing

(2013) Jason O'Rawe et al.   Genome Medicine

Genomic dark matter: the reliability of short read mapping illustrated by the genome mappability score

(2012) Hayan Lee et al.   BIOINFORMATICS

A mechanistic basis for amplification differences between samples and between genome regions

(2012) Colin D Veal et al.   BMC GENOMICS

Blocking Scn10a Channels in Heart Reduces Late Sodium Current and Is Antiarrhythmic

(2012) Tao Yang et al.   CIRCULATION RESEARCH

Functional Na V 1.8 Channels in Intracardiac Neurons

(2012) Arie O. Verkerk et al.   CIRCULATION RESEARCH

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

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

(2012)   NATURE

Exome sequencing and the genetic basis of complex traits

(2012) Adam Kiezun et al.   NATURE GENETICS

The variant call format and VCFtools

(2011) P. Danecek et al.   BIOINFORMATICS

Accurate and comprehensive sequencing of personal genomes

(2011) S. S. Ajay et al.   GENOME RESEARCH

Performance comparison of exome DNA sequencing technologies

(2011) Michael J Clark et al.   NATURE BIOTECHNOLOGY

Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease

(2011) Heribert Schunkert et al.   NATURE GENETICS

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

(2011) Mark A DePristo et al.   NATURE GENETICS

GWASdb: a database for human genetic variants identified by genome-wide association studies

(2011) Mulin Jun Li et al.   NUCLEIC ACIDS RESEARCH

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

(2010) William McLaren et al.   BIOINFORMATICS

Contactin-2 Expression in the Cardiac Purkinje Fiber Network

(2010) Benedetta A. Pallante et al.   Circulation-Arrhythmia and Electrophysiology

Cystic fibrosis testing 8 years on: Lessons learned from carrier screening and sequencing analysis

(2010) Charles M Strom et al.   GENETICS IN MEDICINE

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Genetic variation in SCN10A influences cardiac conduction

(2010) John C Chambers et al.   NATURE GENETICS

Uncovering the roles of rare variants in common disease through whole-genome sequencing

(2010) Elizabeth T. Cirulli et al.   NATURE REVIEWS GENETICS

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

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

The Genetics of Crohn's Disease

(2009) Johan Van Limbergen et al.   Annual Review of Genomics and Human Genetics

VarScan: variant detection in massively parallel sequencing of individual and pooled samples

(2009) Daniel C. Koboldt et al.   BIOINFORMATICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

Amplification-free Illumina sequencing-library preparation facilitates improved mapping and assembly of (G+C)-biased genomes

(2009) Iwanka Kozarewa et al.   NATURE METHODS

Human genetic variation and its contribution to complex traits

(2009) Kelly A. Frazer et al.   NATURE REVIEWS GENETICS

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

(2009) L. A. Hindorff et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Cellular properties of C-terminal KCNH2 long QT syndrome mutations: Description and divergence from clinical phenotypes

(2008) Peter Biliczki et al.   HEART RHYTHM

Genome-wide association studies in cancer

(2008) D. F. Easton et al.   HUMAN MOLECULAR GENETICS