Towards Clinical Molecular Diagnosis of Inherited Cardiac Conditions: A Comparison of Bench-Top Genome DNA Sequencers

A tale of three next generation sequencing platforms: comparison of Ion torrent, pacific biosciences and illumina MiSeq sequencers

(2012) Michael Quail et al.   BMC GENOMICS

Paralogous annotation of disease-causing variants in long QT syndrome genes

(2012) James S. Ware et al.   HUMAN MUTATION

Ultra-high-throughput microbial community analysis on the Illumina HiSeq and MiSeq platforms

(2012) J Gregory Caporaso et al.   ISME Journal

Ion Torrent Personal Genome Machine Sequencing for Genomic Typing of Neisseria meningitidis for Rapid Determination of Multiple Layers of Typing Information

(2012) Ulrich Vogel et al.   JOURNAL OF CLINICAL MICROBIOLOGY

Next-Generation Ion Torrent Sequencing of Drug Resistance Mutations in Mycobacterium tuberculosis Strains

(2012) L. T. Daum et al.   JOURNAL OF CLINICAL MICROBIOLOGY

Microbial 16S rRNA Ion Tag and community metagenome sequencing using the Ion Torrent (PGM) Platform

(2012) Andrew S. Whiteley et al.   JOURNAL OF MICROBIOLOGICAL METHODS

Development of a Next-Generation Sequencing Method for BRCA Mutation Screening

(2012) Maurice Chan et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Performance comparison of benchtop high-throughput sequencing platforms

(2012) Nicholas J Loman et al.   NATURE BIOTECHNOLOGY

Bacterial Community Shift in Treated Periodontitis Patients Revealed by Ion Torrent 16S rRNA Gene Amplicon Sequencing

(2012) Sebastian Jünemann et al.   PLoS One

Improving Indel Detection Specificity of the Ion Torrent PGM Benchtop Sequencer

(2012) Zhen Xuan Yeo et al.   PLoS One

High-throughput, high-fidelity HLA genotyping with deep sequencing

(2012) C. Wang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Management of familial hypercholesterolemia in children and young adults: Consensus paper developed by a panel of lipidologists, cardiologists, paediatricians, nutritionists, gastroenterologists, general practitioners and a patient organization

(2011) O.S. Descamps et al.   ATHEROSCLEROSIS

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

Next generation sequencing for clinical diagnostics and personalised medicine: implications for the next generation cardiologist

(2011) James S Ware et al.   HEART

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

Mutation Analysis Ion Channel Genes Ventricular Fibrillation Survivors with Coronary Artery Disease

(2011) TOMAS NOVOTNY et al.   PACE-PACING AND CLINICAL ELECTROPHYSIOLOGY

Comparison of Three Targeted Enrichment Strategies on the SOLiD Sequencing Platform

(2011) Dale J. Hedges et al.   PLoS One

Detection of low prevalence somatic mutations in solid tumors with ultra-deep targeted sequencing

(2011) Olivier Harismendy et al.   GENOME BIOLOGY

Comparison of solution-based exome capture methods for next generation sequencing

(2011) Anna-Maija Sulonen et al.   GENOME BIOLOGY

BEDTools: a flexible suite of utilities for comparing genomic features

(2010) Aaron R. Quinlan et al.   BIOINFORMATICS

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

(2010) A. McKenna et al.   GENOME RESEARCH

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

Mainstreaming Genetics: A Comparative Review of Clinical Services for Inherited Cardiovascular Conditions in the UK

(2010) H. Burton et al.   Public Health Genomics

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

Enrichment of sequencing targets from the human genome by solution hybridization

(2009) Ryan Tewhey et al.   GENOME BIOLOGY