Next Generation Diagnostics in Inherited Arrhythmia Syndromes

Targeted resequencing of the EGFR and MET genes using the Fluidigm Access Array System and the Roche GS Junior System

(2012) Clotilde Teiling et al.   BIOTECHNIQUES

Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV

(2011) Jarupon Fah Sathirapongsasuti et al.   BIOINFORMATICS

Targeted Next-Generation Sequencing for the Molecular Genetic Diagnostics of Cardiomyopathies

(2011) Benjamin Meder et al.   Circulation-Cardiovascular Genetics

HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies: This document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA)

(2011) M. J. Ackerman et al.   EUROPACE

Performance comparison of exome DNA sequencing technologies

(2011) Michael J Clark et al.   NATURE BIOTECHNOLOGY

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

(2011) Mark A DePristo et al.   NATURE GENETICS

Mutation-Specific Risk in Two Genetic Forms of Type 3 Long QT Syndrome

(2010) Judy F. Liu et al.   AMERICAN JOURNAL OF CARDIOLOGY

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

BEDTools: a flexible suite of utilities for comparing genomic features

(2010) Aaron R. Quinlan et al.   BIOINFORMATICS

A database and API for variation, dense genotyping and resequencing data

(2010) Daniel Rios et al.   BMC BIOINFORMATICS

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

(2010) A. McKenna et al.   GENOME RESEARCH

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Accurate SNP and mutation detection by targeted custom microarray-based genomic enrichment of short-fragment sequencing libraries

(2010) Michal Mokry et al.   NUCLEIC ACIDS RESEARCH

Ensembl 2011

(2010) P. Flicek et al.   NUCLEIC ACIDS RESEARCH

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

High Efficacy of β-Blockers in Long-QT Syndrome Type 1

(2009) G. Michael Vincent et al.   CIRCULATION

The genetic basis of long QT and short QT syndromes: A mutation update

(2009) Paula L. Hedley et al.   HUMAN MUTATION

The RYR2-Encoded Ryanodine Receptor/Calcium Release Channel in Patients Diagnosed Previously With Either Catecholaminergic Polymorphic Ventricular Tachycardia or Genotype Negative, Exercise-Induced Long QT Syndrome

(2009) Argelia Medeiros-Domingo et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

(2009) Andreas Gnirke et al.   NATURE BIOTECHNOLOGY

Sequencing technologies — the next generation

(2009) Michael L. Metzker   NATURE REVIEWS GENETICS

Enrichment of sequencing targets from the human genome by solution hybridization

(2009) Ryan Tewhey et al.   GENOME BIOLOGY

All LQT3 patients need an ICD: True or false?

(2008) Peter J. Schwartz et al.   HEART RHYTHM