Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population

Systematic Evaluation of Sanger Validation of Next-Generation Sequencing Variants

(2016) T. F. Beck et al.   CLINICAL CHEMISTRY

Erratum: Guidelines for diagnostic next-generation sequencing

(2016) Gert Matthijs et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Clinical exome sequencing: results from 2819 samples reflecting 1000 families

(2016) Daniel Trujillano et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Exploiting the potential of next-generation sequencing in genomic medicine

(2016) Anna Maria Pinto et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

Sanger Confirmation Is Required to Achieve Optimal Sensitivity and Specificity in Next-Generation Sequencing Panel Testing

(2016) Wenbo Mu et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Concordance between whole-exome sequencing and clinical Sanger sequencing: implications for patient care

(2016) Alison Hamilton et al.   Molecular Genetics & Genomic Medicine

College of American Pathologists' Laboratory Standards for Next-Generation Sequencing Clinical Tests

(2015) Nazneen Aziz et al.   ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE

Development and analytical validation of a 25-gene next generation sequencing panel that includes the BRCA1 and BRCA2 genes to assess hereditary cancer risk

(2015) Thaddeus Judkins et al.   BMC CANCER

Confirming Variants in Next-Generation Sequencing Panel Testing by Sanger Sequencing

(2015) Linnea M. Baudhuin et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory

(2014) Samuel P. Strom et al.   GENETICS IN MEDICINE

ACMG clinical laboratory standards for next-generation sequencing

(2013) Heidi L. Rehm et al.   GENETICS IN MEDICINE

An integrative variant analysis pipeline for accurate genotype/haplotype inference in population NGS data

(2013) Y. Wang et al.   GENOME RESEARCH

Targeted Next-Generation Sequencing can Replace Sanger Sequencing in Clinical Diagnostics

(2013) Birgit Sikkema-Raddatz et al.   HUMAN MUTATION

Rare-disease genetics in the era of next-generation sequencing: discovery to translation

(2013) Kym M. Boycott et al.   NATURE REVIEWS GENETICS

Performance Evaluation of the Next-Generation Sequencing Approach for Molecular Diagnosis of Hereditary Hearing Loss

(2013) Theru A. Sivakumaran et al.   OTOLARYNGOLOGY-HEAD AND NECK SURGERY

Validation of Next Generation Sequencing Technologies in Comparison to Current Diagnostic Gold Standards for BRAF, EGFR and KRAS Mutational Analysis

(2013) Clare M. McCourt et al.   PLoS One

Assuring the quality of next-generation sequencing in clinical laboratory practice

(2012) Amy S Gargis et al.   NATURE BIOTECHNOLOGY

Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation

(2011) Melanie A. Jones et al.   GENETICS IN MEDICINE

Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: Implications for application to clinical testing

(2011) Jonathan S Berg et al.   GENETICS IN MEDICINE

Sequence Capture and Next-Generation Resequencing of Multiple Tagged Nucleic Acid Samples for Mutation Screening of Urea Cycle Disorders

(2010) U. Amstutz et al.   CLINICAL CHEMISTRY

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

(2010) A. McKenna et al.   GENOME RESEARCH

Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing

(2010) A. E. Shearer et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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