Article

Automated Capture-Based NGS Workflow: One Thousand Patients Experience in a Clinical Routine Framework

2021-03-02

Abstract excerpt

(1) Background: the NGS based mutational study of hereditary cancer genes is crucial to design tailored prevention strategies in subjects with different hereditary cancer risk. The ease of amplicon-based NGS library construction protocols contrasts with the greater uniformity of enrichment provided by capture-based protocols and so with greater chances for detecting larger genomic rearrangements and copy-number va...

Topics

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

Identifiers and source

Literature Corpus work: 002f8d29-05f4-5180-b02d-b2310db76a01
DOI: 10.20944/preprints202103.0103.v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Automated Capture-Based NGS Workflow: One Thousand Patients Experience in a Clinical Routine FrameworkDOI 10.20944/preprints202103.0103.v1Read

Automated capture-based NGS workflow: one thousand patients experience in a clinical routine framework.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

Technical validation of a fully integrated NGS platform in real-world practice of Italian referral institutionSemantic proximity Read

Accurate variant detection across non-amplified and whole genome amplified DNA using targeted next generation sequencing.Semantic proximity Read

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

Parallel in-depth analysis of repeat expansions: an updated Clin-CATS workflow for nanopore R10 flow cellsSemantic proximity Read

GLASS: assisted and standardized assessment of gene variations from Sanger sequence trace dataSemantic proximity Read

Development and clinical applications of an enclosed automated targeted NGS library preparation system.Semantic proximity Read

FLEXIBLE, PRODUCTION-SCALE, HUMAN WHOLE GENOME SEQUENCING ON A BENCHTOP SEQUENCERSemantic proximity Read

Consensus document on the implementation of next generation sequencing in the genetic diagnosis of hereditary cancer.Semantic proximity Read

Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice.Semantic proximity Read

Capture-based high-coverage NGS: a powerful tool to uncover a wide spectrum of mutation types.Semantic proximity Read