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

Consanguinity-based analysis of exome sequencing yields likely genetic causes in patients with inherited retinal dystrophy.

Orphanet journal of rare diseases - 15 Jun 2021

Shen Ren-Juan, Wang Jun-Gang, Li Yang, Jin Zi-Bing

Abstract excerpt

BACKGROUND: Consanguineous families have a relatively high prevalence of genetic disorders caused by bi-allelic mutations in recessive genes. This study aims to evaluate the effectiveness and efficiency of a consanguinity-based exome sequencing approach to capturing genetic mutations in inherited retinal dystrophy families with consanguineous marriages. METHODS: Ten unrelated consanguineous families with a...

Read the complete abstract on PubMed

Topics

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

Share to Cell Cycle Proteins
Share to Consanguinity
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Homozygote

Share to Pedigree

Share to Retinal Dystrophies

Source

Open in PubMed Open full text

Identifiers

PMID: 34130719
DOI: 10.1186/s13023-021-01902-5
PMCID: PMC8204521

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

Consanguinity-based analysis of exome sequencing yields likely genetic causes in patients with inherited retinal dystrophy.PMID 34130719Read ↗

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

Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies.Semantic proximity Read ↗

Clinical exome sequencing for inherited retinal degenerations at a tertiary care center.Semantic proximity Read ↗

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

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

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

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

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

Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.Semantic proximity Read ↗

De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.Semantic proximity Read ↗

Discovery of rare and novel variants in inherited retinal disorders: Exome sequencing analysis of six Iranian families.Semantic proximity Read ↗

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

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