Guidelines for Validation of Next-Generation Sequencing-Based Oncology Panels: A Joint Consensus Recommendation of the Association for Molecular Pathology and College of American Pathologists. (Q39199915)

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scientific article published on 21 March 2017

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English	Guidelines for Validation of Next-Generation Sequencing-Based Oncology Panels: A Joint Consensus Recommendation of the Association for Molecular Pathology and College of American Pathologists.	scientific article published on 21 March 2017

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13 March 2020

Guidelines for Validation of Next-Generation Sequencing-Based Oncology Panels: A Joint Consensus Recommendation of the Association for Molecular Pathology and College of American Pathologists (English)

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13 March 2020

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Suzanne Kamel-Reid

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13 March 2020

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Lawrence J Jennings

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Maria E Arcila

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Christopher Corless

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Ira M Lubin

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John Pfeifer

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Robyn L Temple-Smolkin

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Karl V Voelkerding

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Marina N Nikiforova

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21 March 2017

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The Journal of Molecular Diagnostics

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13 March 2020

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13 March 2020

341-365

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13 March 2020

Next-generation sequencing of custom amplicons to improve coverage of HaloPlex multigene panels

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Performance comparison of exome DNA sequencing technologies

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Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing

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Copy number variation detection and genotyping from exome sequence data

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How does DNA break during chromosomal translocations?

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Using a combination of reference tests to assess the accuracy of a new diagnostic test

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

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Bias in discrepant analysis: when two wrongs don't make a right.

1 reference

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CoNVEX: copy number variation estimation in exome sequencing data using HMM

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Performance comparison between rapid sequencing platforms for ultra-low coverage sequencing strategy

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Synthetic spike-in standards improve run-specific systematic error analysis for DNA and RNA sequencing

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Quantitative and sensitive detection of GNAS mutations causing mccune-albright syndrome with next generation sequencing

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BreakDancer: an algorithm for high-resolution mapping of genomic structural variation

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CREST maps somatic structural variation in cancer genomes with base-pair resolution.

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Origins and functional impact of copy number variation in the human genome

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

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Cytosine deamination is a major cause of baseline noise in next-generation sequencing

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

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Summarizing and correcting the GC content bias in high-throughput sequencing

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Detection and quantification of rare mutations with massively parallel sequencing

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Template for Reporting Results of Biomarker Testing of Specimens From Patients With Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma.

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Detection of FLT3 internal tandem duplication in targeted, short-read-length, next-generation sequencing data

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A comparative analysis of exome capture

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Intratumor Heterogeneity and Branched Evolution Revealed by Multiregion Sequencing

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In Silico Proficiency Testing for Clinical Next-Generation Sequencing

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A Multiplexed Amplicon Approach for Detecting Gene Fusions by Next-Generation Sequencing

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The new sequencer on the block: comparison of Life Technology's Proton sequencer to an Illumina HiSeq for whole-exome sequencing

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The development of next-generation sequencing assays for the mitochondrial genome and 108 nuclear genes associated with mitochondrial disorders

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Targeted NGS: A Cost-Effective Approach to Molecular Diagnosis of PIDs

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Genetic and cytogenetical effects of formaldehyde and related compounds

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Generation of artificial FASTQ files to evaluate the performance of next-generation sequencing pipelines

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Current landscape and new paradigms of proficiency testing and external quality assessment for molecular genetics

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Reactions of Nucleic Acids and NucleoDroteins with Formaldehyde

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A framework for variation discovery and genotyping using next-generation DNA sequencing data

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The biogenesis of chromosome translocations.

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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

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Quantifying the bias associated with use of discrepant analysis

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Mosaicism in sporadic neurofibromatosis type 1: variations on a theme common to other hereditary cancer syndromes?

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Detection of ultra-rare mutations by next-generation sequencing

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1 reference

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1 reference

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1 reference

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Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders

1 reference

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1 reference

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1 reference

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1 reference

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1 reference

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12 December 2020

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1 reference

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based on heuristic

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1 reference

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1 reference

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Discrepant analysis is an inappropriate and unscientific method.

1 reference

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12 December 2020

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1 reference

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1 reference

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1 reference

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1 reference

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1 reference

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1 reference

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Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets (MSK-IMPACT): A Hybridization Capture-Based Next-Generation Sequencing Clinical Assay for Solid Tumor Molecular Oncology

1 reference

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1 reference

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1 reference

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1 reference

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Identifiers

10.1016/J.JMOLDX.2017.01.011

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Europe PubMed Central

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13 March 2020

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13 March 2020

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13 March 2020

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