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 versus transcriptome sequencing in identifying coding region variants.

Expert review of molecular diagnostics - 1 Apr 2012

Ku Chee-Seng, Wu Mengchu, Cooper David N, Naidoo Nasheen, Pawitan Yudi, Pang Brendan, Iacopetta Barry, Soong Richie

Abstract excerpt

The advent of next-generation sequencing technologies has revolutionized the study of genetic variation in the human genome. Whole-genome sequencing currently represents the most comprehensive strategy for variant detection genome-wide but is costly for large sample sizes, and variants detected in noncoding regions remain largely uninterpretable. By contrast, whole-exome sequencing has been widely applied in the...

Read the complete abstract on PubMed

Topics

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

Share to Exome
Share to Genome, Human
Share to Genome-Wide Association Study

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to High-Throughput Nucleotide Sequencing

Share to RNA, Messenger

Share to Sequence Analysis, DNA

Share to Sequence Analysis, RNA

Share to Transcriptome

Source

Identifiers

PMID: 22468815
DOI: 10.1586/erm.12.10

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 versus transcriptome sequencing in identifying coding region variants.PMID 22468815Read ↗

Transcriptome analysis provides critical answers to the “variants of uncertain significance” conundrumSemantic proximity Read ↗

Screening the human exome: a comparison of whole genome and whole transcriptome sequencing.Semantic proximity Read ↗

Exome sequencing: capture and sequencing of all human coding regions for disease gene discovery.Semantic proximity Read ↗

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

Transcriptome analysis provides critical answers to the "variants of uncertain significance" conundrum.Semantic proximity Read ↗

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

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

Diagnostic utility of transcriptome sequencing for rare Mendelian diseasesSemantic proximity Read ↗

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

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

Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencingSemantic proximity Read ↗

Exome RNA sequencing reveals rare and novel alternative transcripts.Semantic proximity Read ↗

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