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

Clinical application of whole-exome sequencing: A retrospective, single-center study

12 May 2021

Abstract excerpt

The aim of the present study was to assess the practical diagnostic value of whole-exome sequencing (WES) in patients with different phenotypes and to explore possible strategies to increase the capability of WES in identifying disease-causing genes. A total of 1,360 patients (aged from 1 day to 42 years old) with manifestations of genetic diseases were genotyped using WES and statistical analysis was performed...

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: 34035850
DOI: 10.3892/etm.2021.10185

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

Clinical application of whole-exome sequencing: A retrospective, single-center studyPMID 34035850Read ↗

Clinical application of whole-exome sequencing across clinical indications.Semantic proximity Read ↗

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

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

The application of whole-exome sequencing in the early diagnosis of rare genetic diseases in children: a study from Southeastern ChinaSemantic proximity Read ↗

The usefulness of whole-exome sequencing in routine clinical practice.Semantic proximity Read ↗

Molecular Findings Among Patients Referred for Clinical Whole-Exome SequencingSemantic proximity Read ↗

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

Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseasesSemantic proximity Read ↗

The clinical utility of whole-exome sequencing in the context of rare diseases - the changing tides of medical practice.Semantic proximity Read ↗

Molecular Findings Among Patients for Whole Exome Sequencing and mitochondrial genome assessmentSemantic proximity Read ↗

Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center’s ExperienceSemantic proximity Read ↗

Practical considerations in the clinical application of whole‐exome sequencingSemantic proximity Read ↗

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