Development of a Targeted Multi-Disorder High-Throughput Sequencing Assay for the Effective Identification of Disease-Causing Variants

A systematic approach to assessing the clinical significance of genetic variants

(2013) H Duzkale et al.   CLINICAL GENETICS

New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants

(2013) Charlotte Andreasen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

(2013) Kornelia Neveling et al.   HUMAN MUTATION

Next generation diagnostics of cystic fibrosis andCFTR-related disorders by targeted multiplex high-coverage resequencing ofCFTR

(2013) D Trujillano et al.   JOURNAL OF MEDICAL GENETICS

Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics

(2013) Olaf R F Mook et al.   JOURNAL OF MEDICAL GENETICS

Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing

(2013) Kevin P Kenna et al.   JOURNAL OF MEDICAL GENETICS

Targeted-capture massively-parallel sequencing enables robust detection of clinically informative mutations from formalin-fixed tumours

(2013) Stephen Q. Wong et al.   Scientific Reports

Population Genetic Inference from Personal Genome Data: Impact of Ancestry and Admixture on Human Genomic Variation

(2012) Jeffrey M. Kidd et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

(2012) H. Thorvaldsdottir et al.   BRIEFINGS IN BIOINFORMATICS

Mutations in the area composita protein αT-catenin are associated with arrhythmogenic right ventricular cardiomyopathy

(2012) Jolanda van Hengel et al.   EUROPEAN HEART JOURNAL

The Wasp System: An open source environment for managing and analyzing genomic data

(2012) Andrew S. McLellan et al.   GENOMICS

Loss of αT-catenin alters the hybrid adhering junctions in the heart and leads to dilated cardiomyopathy and ventricular arrhythmia following acute ischemia

(2012) Jifen Li et al.   JOURNAL OF CELL SCIENCE

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

(2012)   NATURE

HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies

(2011) Michael J. Ackerman et al.   HEART RHYTHM

A scalable, fully automated process for construction of sequence-ready human exome targeted capture libraries

(2011) Sheila Fisher et al.   GENOME BIOLOGY

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

(2010) Heng Li et al.   BIOINFORMATICS

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

(2010) A. McKenna et al.   GENOME RESEARCH

Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa

(2010) D. A. Simpson et al.   JOURNAL OF MEDICAL GENETICS

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

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

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS