Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes

A Rapid, High-Quality, Cost-Effective, Comprehensive and Expandable Targeted Next-Generation Sequencing Assay for Inherited Heart DiseasesNovelty and Significance

(2015) Kitchener D. Wilson et al.   CIRCULATION RESEARCH

Targeted next-generation sequencing (NGS) of nine candidate genes with custom AmpliSeq in patients and a cardiomyopathy risk group

(2015) Andrey S. Glotov et al.   CLINICA CHIMICA ACTA

Genetics and genotype–phenotype correlations in Finnish patients with dilated cardiomyopathy

(2015) Oyediran Akinrinade et al.   EUROPEAN HEART JOURNAL

Impact of three Illumina library construction methods on GC bias and HLA genotype calling

(2015) James H. Lan et al.   HUMAN IMMUNOLOGY

Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes

(2015) Dorien Proost et al.   HUMAN MUTATION

A Hypertrophic Cardiomyopathy-associatedMYBPC3Mutation Common in Populations of South Asian Descent Causes Contractile Dysfunction

(2015) Diederik W. D. Kuster et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants

(2015) Aziz Belkadi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

An analytical framework for optimizing variant discovery from personal genomes

(2015) Gareth Highnam et al.   Nature Communications

Achieving high-sensitivity for clinical applications using augmented exome sequencing

(2015) Anil Patwardhan et al.   Genome Medicine

Evaluation of a new NGS method based on a custom AmpliSeq library and Ion Torrent PGM sequencing for the fast detection of genetic variations in cardiomyopathies

(2014) Gilles Millat et al.   CLINICA CHIMICA ACTA

Clinical Interpretation and Implications of Whole-Genome Sequencing

(2014) Frederick E. Dewey et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

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

(2014) Justin M Zook et al.   NATURE BIOTECHNOLOGY

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

(2013) Come Raczy et al.   BIOINFORMATICS

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

(2013) Robert C. Green et al.   GENETICS IN MEDICINE

Inherited Arrhythmia Syndromes

(2013) Sumeet S. Chugh et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Disease-targeted sequencing: a cornerstone in the clinic

(2013) Heidi L. Rehm   NATURE REVIEWS GENETICS

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

(2013) Xinzhong Li et al.   PLoS One

Truncations of Titin Causing Dilated Cardiomyopathy

(2012) Daniel S. Herman et al.   NEW ENGLAND JOURNAL OF MEDICINE

Fast Computation and Applications of Genome Mappability

(2012) Thomas Derrien et al.   PLoS One

Next Generation Diagnostics in Inherited Arrhythmia Syndromes

(2012) James S. Ware et al.   Journal of Cardiovascular Translational Research

Tabix: fast retrieval of sequence features from generic TAB-delimited files

(2011) H. Li   BIOINFORMATICS

The variant call format and VCFtools

(2011) P. Danecek et al.   BIOINFORMATICS

Quality control and preprocessing of metagenomic datasets

(2011) R. Schmieder et al.   BIOINFORMATICS

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

(2011) James S Ware et al.   HEART

Deep Sequencing of Patient Genomes for Disease Diagnosis: When Will It Become Routine?

(2011) S. F. Kingsmore et al.   Science Translational Medicine

The functional spectrum of low-frequency coding variation

(2011) Gabor T Marth et al.   GENOME BIOLOGY

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

(2010) William McLaren et al.   BIOINFORMATICS

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

Next Generation Sequencing for Clinical Diagnostics-Principles and Application to Targeted Resequencing for Hypertrophic Cardiomyopathy

(2010) Karl V. Voelkerding et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

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

A novel mutation in LAMIN A/C is associated with isolated early-onset atrial fibrillation and progressive atrioventricular block followed by cardiomyopathy and sudden cardiac death

(2009) Hubert Pan et al.   HEART RHYTHM