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

Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.

Human mutation - 1 Dec 2022

Hitti-Malin Rebekkah J, Dhaenens Claire-Marie, Panneman Daan M, Corradi Zelia, Khan Mubeen, den Hollander Anneke I, Farrar G Jane, Gilissen Christian, Hoischen Alexander, van de Vorst Maartje, Bults Femke, Boonen Erica G M, Saunders Patrick, Roosing Susanne, Cremers Frans P M

Abstract excerpt

Macular degenerations (MDs) are a subgroup of retinal disorders characterized by central vision loss. Knowledge is still lacking on the extent of genetic and nongenetic factors influencing inherited MD (iMD) and age-related MD (AMD) expression. Single molecule Molecular Inversion Probes (smMIPs) have proven effective in sequencing the ABCA4 gene in patients with Stargardt disease to identify associated coding and...

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

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cost-Benefit Analysis

Share to High-Throughput Nucleotide Sequencing

Share to Macular Degeneration

Share to Mutation

Share to Stargardt Disease

Source

Open in PubMed Open full text

Identifiers

PMID: 36259723
DOI: 10.1002/humu.24489
PMCID: PMC10092144

Provenance

PubMed metadata and Literature Corpus relationships.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.PMID 36259723Read ↗

Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseasesSemantic proximity Read ↗

Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK.Semantic proximity Read ↗

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.Semantic proximity Read ↗

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosisSemantic proximity Read ↗

Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability.Semantic proximity Read ↗

Resolving the dark matter of <i>ABCA4</i> for 1,054 Stargardt disease probands through integrated genomics and transcriptomicsSemantic proximity Read ↗

Molecular diagnosis of putative Stargardt Disease probands by exome sequencing.Semantic proximity Read ↗

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.Semantic proximity Read ↗

Whole genome sequencing of 4,787 individuals identifies gene-based rare variants in age-related macular degeneration.Semantic proximity Read ↗

Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients.Semantic proximity Read ↗

SmMIP-tools: a computational toolset for processing and analysis of single-molecule molecular inversion probes-derived data.Semantic proximity Read ↗

Genetic Screening of a Nonsyndromic Amelogenesis Imperfecta Patient Cohort Using a Custom smMIP Reagent for Selective Enrichment of Target LociSemantic proximity Read ↗

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