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Simultaneous Detection of Common Founder Mutations Using a Cost-Effective Deep Sequencing Panel.

Genes - 20 May 2024

Shalom Sapir, Hanany Mor, Eilat Avital, Chowers Itay, Ben-Yosef Tamar, Khateb Samer, Banin Eyal, Sharon Dror

Abstract excerpt

Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of diseases which cause visual loss due to Mendelian mutations in over 250 genes, making genetic diagnosis challenging and time-consuming. Here, we developed a new tool, CDIP (Cost-effective Deep-sequencing IRD Panel) in which a simultaneous sequencing of common mutations is performed. CDIP is based on simultaneous...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38790275
DOI: 10.3390/genes15050646
PMCID: PMC11120920

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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.

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