Article

Software-assisted manual review of clinical NGS data: an alternative to routine Sanger sequencing confirmation with equivalent results in >15,000 hereditary cancer screens

2018-04-22

Abstract excerpt

<h4>ABSTRACT</h4> Clinical genomic tests increasingly utilize a next generation sequencing (NGS) platform due in part to the high fidelity of variant calls, yet rare errors are still possible. In hereditary cancer screening, failure to correct such errors could have serious consequences for patients, who may follow an unwarranted screening or surgical-management path. It has been suggested that routine orthogonal...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 3ae3628c-b741-590b-be1f-8237ab14359c
DOI: 10.1101/305011

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Software-assisted manual review of clinical NGS data: an alternative to routine Sanger sequencing confirmation with equivalent results in >15,000 hereditary cancer screensDOI 10.1101/305011Read

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

One in seven pathogenic variants can be challenging to detect by NGS: An analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementationSemantic proximity Read

Systematic Evaluation of Sanger Validation of Next-Generation Sequencing Variants.Semantic proximity Read

Reducing Sanger Confirmation Testing through False Positive Prediction AlgorithmsSemantic proximity Read

A Rigorous Interlaboratory Examination of the Need to Confirm NGS-Detected Variants with an Orthogonal Method in Clinical Genetic TestingSemantic proximity Read

Confirming Variants in Next-Generation Sequencing Panel Testing by Sanger Sequencing.Semantic proximity Read

Toward Better Oversight of NGS Tests.Semantic proximity Read

The Value of Parental Testing by Next-Generation Sequencing Includes the Detection of Germline Mosaicism.Semantic proximity Read

Sanger Validation of High-Throughput Sequencing in Genetic Diagnosis: Still the Best Practice?Semantic proximity Read

Quantitative Optimization of Sensitivity and Specificity in Targeted and Whole-Exome Sequencing Using Reference-Standard DNA MixturesSemantic proximity Read

Automated Identification of Germline <i>de novo</i> Mutations in Family Trios: A Consensus-Based Informatic ApproachSemantic proximity Read

Automated Capture-Based NGS Workflow: One Thousand Patients Experience in a Clinical Routine FrameworkSemantic proximity Read