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

Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.

International journal of molecular sciences - 3 Feb 2021

Maggi Jordi, Koller Samuel, Bähr Luzy, Feil Silke, Kivrak Pfiffner Fatma, Hanson James V M, Maspoli Alessandro, Gerth-Kahlert Christina, Berger Wolfgang

Abstract excerpt

The purpose of this study was to develop a flexible, cost-efficient, next-generation sequencing (NGS) protocol for genetic testing. Long-range polymerase chain reaction (PCR) amplicons of up to 20 kb in size were designed to amplify entire genomic regions for a panel (n = 35) of inherited retinal disease (IRD)-associated loci. Amplicons were pooled and sequenced by NGS. The analysis was applied to 227 probands...

Read the complete abstract on PubMed

Topics

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

Share to ATP-Binding Cassette Transporters
Share to Bestrophins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cyclic Nucleotide-Gated Cation Channels

Share to DNA Copy Number Variations

Share to Eye Proteins

Share to Microtubule-Associated Proteins

Share to Peripherins

Share to Retinal Diseases

Source

Open in PubMed Open full text

Identifiers

PMID: 33546218
DOI: 10.3390/ijms22041508
PMCID: PMC7913364

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.PMID 33546218Read ↗

Long-range PCR-based NGS applications to diagnose Mendelian retinal diseasesSemantic proximity Read ↗

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

Scaling New Heights in the Genetic Diagnosis of Inherited Retinal Dystrophies.Semantic proximity Read ↗

Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.Semantic proximity Read ↗

Resolving the diagnostic odyssey in inherited retinal dystrophies through long-read genome sequencingSemantic proximity Read ↗

Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseasesSemantic proximity Read ↗

The Diagnostic Yield of Next Generation Sequencing in Inherited Retinal Diseases: A Systematic Review and Meta-analysis.Semantic proximity Read ↗

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

Resolving the Diagnostic Odyssey in Inherited Retinal Dystrophies Through Long-Read Genome Sequencing.Semantic proximity Read ↗

Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies.Semantic proximity Read ↗

Systematic evaluation of a targeted gene capture sequencing panel for molecular diagnosis of retinitis pigmentosa.Semantic proximity Read ↗

Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerationsSemantic proximity Read ↗

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