Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes

Inherited retinal diseases (IRDs) are extremely heterogeneous with at least 350 causative genes, complicating the process of genetic diagnosis. We analyzed samples of 252 index cases with IRDs using the Blueprint Genetics panel for "Retinal Dystrophy" that includes 351 genes. The cause of...

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Veröffentlicht in:	Genes 2024-07, Vol.15 (7), p.926
Hauptverfasser:	Abu Elasal, Maria, Mousa, Samira, Salameh, Manar, Blumenfeld, Anat, Khateb, Samer, Banin, Eyal, Sharon, Dror
Format:	Artikel
Sprache:	eng
Schlagworte:	ATP-Binding Cassette Transporters - genetics Bioinformatics CRISPR Disease DNA methylation Ethics Exome Sequencing - methods Extracellular Matrix Proteins - genetics Eye Proteins - genetics Female Genes Genetic analysis Genetic aspects Genetic Predisposition to Disease Genetic screening Genetic testing Genetic Testing - methods Genomes Genomics heterozygosity Humans Male mitochondria Multiculturalism & pluralism Mutation Patients Pedigree Photoreceptors Privacy Retina Retinal degeneration Retinal diseases Retinal Diseases - genetics Retinal Dystrophies - genetics Software Success USH2A protein Whole genome sequencing
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