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

Exome sequencing explained: a practical guide to its clinical application.

Briefings in functional genomics - 1 Sept 2016

Seaby Eleanor G, Pengelly Reuben J, Ennis Sarah

Abstract excerpt

Next-generation sequencing has catapulted healthcare into a revolutionary genomics era. One such technology, whole-exome sequencing, which targets the protein-coding regions of the genome, has proven success in identifying new causal mutations for diseases of previously unknown etiology. With a successful diagnostic rate approaching 25% for rare disease in recent studies, its clinical utility is becoming...

Read the complete abstract on PubMed

Topics

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

Share to Exome
Share to Genetic factors in colorectal cancer
Share to Genomics

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genomics and Rare Diseases

Share to High-Throughput Nucleotide Sequencing

Share to Phenotype

Share to Polymorphism, Single Nucleotide

Share to Sequence Analysis, DNA

Source

Identifiers

PMID: 26654982
DOI: 10.1093/bfgp/elv054

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Exome sequencing explained: a practical guide to its clinical application.PMID 26654982Read ↗

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

Diagnosing rare diseases after the exome.Semantic proximity Read ↗

Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders.Semantic proximity Read ↗

Analysis and annotation of whole-genome or whole-exome sequencing-derived variants for clinical diagnosis.Semantic proximity Read ↗

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

Whole-exome sequencing as a diagnostic tool: current challenges and future opportunitiesSemantic proximity Read ↗

Exome sequencing as a tool for Mendelian disease gene discovery.Semantic proximity Read ↗

How to Identify Pathogenic Mutations among All Those Variations: Variant Annotation and Filtration in the Genome Sequencing Era.Semantic proximity Read ↗

ExomeSlicer: a resource for the development and validation of exome-based clinical panelsSemantic proximity Read ↗

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

A practical guide to filtering and prioritizing genetic variants.Semantic proximity Read ↗

Recommendations for whole genome sequencing in diagnostics for rare diseases.Semantic proximity Read ↗

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