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-Read Nanopore Sequencing of RPGR ORF15 is Enhanced Following DNase I Treatment of MinION Flow Cells.

Molecular diagnosis & therapy - 1 Jul 2023

Yahya Samar, Watson Christopher M, Carr Ian, McKibbin Martin, Crinnion Laura A, Taylor Morag, Bonin Hope, Fletcher Tracy, El-Asrag Mohammed E, Ali Manir, Toomes Carmel, Inglehearn Chris F

Abstract excerpt

INTRODUCTION: RPGR ORF15 is an exon present almost exclusively in the retinal transcript of RPGR. It is purine-rich, repetitive and notoriously hard to sequence, but is a hotspot for mutations causing X-linked retinitis pigmentosa. METHODS: Long-read nanopore sequencing on MinION and Flongle flow cells was used to sequence RPGR ORF15 in genomic DNA from patients with inherited retinal dystrophy. A flow cell wash...

Read the complete abstract on PubMed

Topics

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

Share to Exons
Share to Eye Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Nanopore Sequencing

Share to Retinitis Pigmentosa

Source

Open in PubMed Open full text

Identifiers

PMID: 37284979
DOI: 10.1007/s40291-023-00656-z
PMCID: PMC10299921

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Long-Read Nanopore Sequencing of RPGR ORF15 is Enhanced Following DNase I Treatment of MinION Flow Cells.PMID 37284979Read ↗

Development of High-Throughput Clinical Testing of RPGR ORF15 Using a Large Inherited Retinal Dystrophy Cohort.Semantic proximity Read ↗

Improved Diagnosis of Inherited Retinal Dystrophies by High-Fidelity PCR of ORF15 followed by Next-Generation Sequencing.Semantic proximity Read ↗

RPGRorf15 nanopore long-read sequencing improves retinitis pigmentosa molecular diagnosis for men and women.Semantic proximity Read ↗

De Novo Assembly-Based Analysis of RPGR Exon ORF15 in an Indigenous African Cohort Overcomes Limitations of a Standard Next-Generation Sequencing (NGS) Data Analysis Pipeline.Semantic proximity Read ↗

Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa.Semantic proximity Read ↗

Towards a Long-Read Sequencing Approach for the Molecular Diagnosis of RPGRORF15 Genetic Variants.Semantic proximity Read ↗

Identification of false-negative mutations missed by next-generation sequencing in retinitis pigmentosa patients: a complementary approach to clinical genetic diagnostic testing.Semantic proximity Read ↗

Functional Analysis of a Novel, Non-Canonical RPGR Splice Variant Causing X-Linked Retinitis Pigmentosa.Semantic proximity Read ↗

Long‐read nanopore DNA sequencing can resolve complex intragenic duplication/deletion variants, providing information to enable preimplantation genetic diagnosisSemantic proximity Read ↗

ORF15 exon of the RPGR gene in retinitis pigmentosa – technically difficult, diagnostically important.Semantic proximity Read ↗

Population haplotypes of exon ORF15 of the retinitis pigmentosa GTPase regulator gene in Germany : implications for screening for inherited retinal disorders.Semantic proximity Read ↗

Identification of a novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa.Semantic proximity Read ↗

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