Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Development and validation of a whole-exome sequencing test for simultaneous detection of point mutations, indels and copy-number alterations for precision cancer care

20 Jul 2016

Abstract excerpt

We describe Exome Cancer Test v1.0 (EXaCT-1), the first New York State-Department of Health-approved whole-exome sequencing (WES)-based test for precision cancer care. EXaCT-1 uses HaloPlex (Agilent) target enrichment followed by next-generation sequencing (Illumina) of tumour and matched constitutional control DNA. We present a detailed clinical development and validation pipeline suitable for simultaneous...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cancer Genomics and Diagnostics
Share to Genetic factors in colorectal cancer
Share to Genomics and Rare Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 28781886
DOI: 10.1038/npjgenmed.2016.19

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Development and validation of a whole-exome sequencing test for simultaneous detection of point mutations, indels and copy-number alterations for precision cancer carePMID 28781886Read ↗

Automated next-generation profiling of genomic alterations in human cancers.Semantic proximity Read ↗

Validation of a next-generation sequencing assay for clinical molecular oncology.Semantic proximity Read ↗

Development and validation of a scalable next-generation sequencing system for assessing relevant somatic variants in solid tumors.Semantic proximity Read ↗

An absolute approach to using whole exome DNA and RNA workflow for cancer biomarker testingSemantic proximity Read ↗

Validation and implementation of targeted capture and sequencing for the detection of actionable mutation, copy number variation, and gene rearrangement in clinical cancer specimens.Semantic proximity Read ↗

Clinical and Technical Validation of OncoIndx® Assay – A Comprehensive Genome Profiling Assay for Pan-Cancer InvestigationsSemantic proximity Read ↗

EXaCT-2: An augmented and customizable oncology-focused whole exome sequencing platformSemantic proximity Read ↗

Analytical and Clinical Validation of a Target-Enhanced Whole Genome Sequencing-Based Comprehensive Genomic Profiling Test.Semantic proximity Read ↗

Germline Findings in Tumor-Only Sequencing: Points to Consider for Clinicians and Laboratories.Semantic proximity Read ↗

A targeted next-generation sequencing panel for identification of clinically relevant mutation profiles in solid tumoursSemantic proximity Read ↗

Validation of OncoPanel: A Targeted Next-Generation Sequencing Assay for the Detection of Somatic Variants in Cancer.Semantic proximity Read ↗

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.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.