Article

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

2023-08-01

Abstract excerpt

<title>Abstract</title> <p>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...

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Literature Corpus work: d772baf9-c578-5ead-8113-0ebfd0e790d3
DOI: 10.21203/rs.3.rs-3184794/v1

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