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 genome sequencing enables new genetic diagnosis for inherited retinal diseases by identifying pathogenic variants

20 Jan 2024

Abstract excerpt

Inherited retinal diseases (IRDs) are a group of common primary retinal degenerative disorders. Conventional genetic testing strategies, such as panel-based sequencing and whole exome sequencing (WES), can only elucidate the genetic etiology in approximately 60% of IRD patients. Studies have suggested that unsolved IRD cases could be attributed to previously undetected structural variants (SVs) and intronic...

Read the complete abstract on PubMed

Topics

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

Share to Cellular transport and secretion
Share to Retinal Development and Disorders
Share to Retinal Diseases and Treatments

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Source

Identifiers

PMID: 38245557
DOI: 10.1038/s41525-024-00391-2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 16 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Whole genome sequencing enables new genetic diagnosis for inherited retinal diseases by identifying pathogenic variantsPMID 38245557Read ↗

Novel Pathogenic Mutations Identified from Whole-Genome Sequencing in Unsolved Cases of Patients Affected with Inherited Retinal Diseases.Semantic proximity Read ↗

Revealing Molecular Diagnosis With Whole Exome Sequencing in Patients With Inherited Retinal Disorders.Semantic proximity Read ↗

Decoding the Genetic Puzzle of Inherited Retinal Dystrophies: Novel Insights From a Turkish Cohort.Semantic proximity Read ↗

Whole Exome Sequencing Unveils Novel Pathogenic Variants in an Iranian Cohort with Retinal Dystrophies: Implications for Genetic Diagnosis and CounselingSemantic proximity Read ↗

Systematic assessment of the contribution of structural variants to inherited retinal diseasesSemantic proximity Read ↗

Whole exome sequencing of 491 individuals with inherited retinal diseases reveals a large spectrum of variants and identification of novel candidate genesSemantic proximity Read ↗

Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.Semantic proximity Read ↗

Systematic assessment of the contribution of structural variants to inherited retinal diseases.Semantic proximity Read ↗

Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.Semantic proximity Read ↗

Whole-Exome Sequencing in 168 Korean Patients with Inherited Retinal DegenerationSemantic proximity Read ↗

Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients.Semantic proximity Read ↗

Clinical Exome Sequencing for Inherited Retinal Disorders at a Tertiary Care CenterSemantic proximity Read ↗

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