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

Whole-exome sequencing as a diagnostic tool: current challenges and future opportunities

9 May 2015

Abstract excerpt

Whole-exome sequencing (WES) represents a significant breakthrough in the field of human genetics. This technology has largely contributed to the identification of new disease-causing genes and is now entering clinical laboratories. WES represents a powerful tool for diagnosis and could reduce the 'diagnostic odyssey' for many patients. In this review, we present a technical overview of WES analysis, variants...

Read the complete abstract on PubMed

Topics

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

Share to Genetic factors in colorectal cancer
Share to Genomic variations and chromosomal abnormalities
Share to Genomics and Rare Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 25959410
DOI: 10.1586/14737159.2015.1039516

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

Whole-exome sequencing as a diagnostic tool: current challenges and future opportunitiesPMID 25959410Read ↗

The promise of whole-exome sequencing in medical genetics.Semantic proximity Read ↗

Exome sequencing greatly expedites the progressive research of Mendelian diseases.Semantic proximity Read ↗

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variantsSemantic proximity Read ↗

Whole genome sequencing in clinical practice.Semantic proximity Read ↗

Analysis and Annotation of Whole-Genome or Whole-Exome Sequencing Derived Variants for Clinical Diagnosis.Semantic proximity Read ↗

Exome sequencing in genetic disease: recent advances and considerationsSemantic proximity Read ↗

NGS Approaches in Clinical Diagnostics: From Workflow to Disease-Specific ApplicationsSemantic proximity Read ↗

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants.Semantic proximity Read ↗

Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's PerspectiveSemantic proximity Read ↗

Diagnostic yield of whole exome sequencing in a cohort of 825 patientsSemantic proximity Read ↗

Exome sequencing analysis: a guide to disease variant detection.Semantic proximity Read ↗

Exome sequencing explained: a practical guide to its clinical application.Semantic proximity Read ↗

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