Assessment of the latest NGS enrichment capture methods in clinical context
Published 2016 View Full Article
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Title
Assessment of the latest NGS enrichment capture methods in clinical context
Authors
Keywords
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Journal
Scientific Reports
Volume 6, Issue 1, Pages -
Publisher
Springer Nature
Online
2016-02-11
DOI
10.1038/srep20948
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Note: Only part of the references are listed.- Towards a European consensus for reporting incidental findings during clinical NGS testing
- (2015) Jayne Y Hehir-Kwa et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Guidelines for diagnostic next-generation sequencing
- (2015) Gert Matthijs et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions
- (2015) Stefan H. Lelieveld et al. HUMAN MUTATION
- Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing
- (2015) Eric Samorodnitsky et al. HUMAN MUTATION
- New insights into the performance of human whole-exome capture platforms
- (2015) J. Meienberg et al. NUCLEIC ACIDS RESEARCH
- Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families
- (2015) Anas M. Alazami et al. Cell Reports
- Performance comparison of four exome capture systems for deep sequencing
- (2014) Chandra Sekhar Chilamakuri et al. BMC GENOMICS
- Library preparation methods for next-generation sequencing: Tone down the bias
- (2014) Erwin L. van Dijk et al. EXPERIMENTAL CELL RESEARCH
- Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible and more sensitive for variant detection, than exome sequencing
- (2014) Mark B. Consugar et al. GENETICS IN MEDICINE
- Resolving the genetic heterogeneity of prelingual hearing loss within one family: Performance comparison and application of two targeted next generation sequencing approaches
- (2014) Yu Lu et al. JOURNAL OF HUMAN GENETICS
- Comprehensive Diagnostic Testing for Stereocilin
- (2014) Diana Mandelker et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- DFNB16 is a frequent cause of congenital hearing impairment: implementation ofSTRCmutation analysis in routine diagnostics
- (2013) B. Vona et al. CLINICAL GENETICS
- ACMG clinical laboratory standards for next-generation sequencing
- (2013) Heidi L. Rehm et al. GENETICS IN MEDICINE
- Disease-targeted sequencing: a cornerstone in the clinic
- (2013) Heidi L. Rehm NATURE REVIEWS GENETICS
- Using Whole-Exome Sequencing to Identify Inherited Causes of Autism
- (2013) Timothy W. Yu et al. NEURON
- Experience of targeted Usher exome sequencing as a clinical test
- (2013) Thomas Besnard et al. Molecular Genetics & Genomic Medicine
- A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective
- (2012) Whitney L Wooderchak-Donahue et al. BMC Medical Genomics
- Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration
- (2012) H. Thorvaldsdottir et al. BRIEFINGS IN BIOINFORMATICS
- Genetic diagnosis of autosomal dominant polycystic kidney disease by targeted capture and next-generation sequencing: Utility and limitations
- (2012) Xiao-Ping Qi et al. GENE
- Assuring the quality of next-generation sequencing in clinical laboratory practice
- (2012) Amy S Gargis et al. NATURE BIOTECHNOLOGY
- Next Generation Diagnostics in Inherited Arrhythmia Syndromes
- (2012) James S. Ware et al. Journal of Cardiovascular Translational Research
- Analyzing and minimizing bias in Illumina sequencing libraries
- (2012) Daniel Aird et al. GENOME BIOLOGY
- Insertion site preference of Mu, Tn5, and Tn7 transposons
- (2012) Brian Green et al. Mobile DNA
- Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment
- (2011) Lauren J. Francey et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- 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
- Optimal enzymes for amplifying sequencing libraries
- (2011) Michael A Quail et al. NATURE METHODS
- Comparison of Three Targeted Enrichment Strategies on the SOLiD Sequencing Platform
- (2011) Dale J. Hedges et al. PLoS One
- A comparative analysis of exome capture
- (2011) Jennifer S Parla et al. GENOME BIOLOGY
- Comparison of solution-based exome capture methods for next generation sequencing
- (2011) Anna-Maija Sulonen et al. GENOME BIOLOGY
- Comprehensive comparison of three commercial human whole-exome capture platforms
- (2011) Asan et al. GENOME BIOLOGY
- Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing
- (2010) J. K. Teer et al. GENOME RESEARCH
- 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
- 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
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