{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["64(2)"],"submitter":["Li W"],"pubmed_abstract":["<h4>Purpose</h4>The purpose of this study was to describe genotype-phenotype associations and novel insights into genetic characteristics in a trio-based cohort of inherited eye diseases (IEDs).<h4>Methods</h4>To determine the etiological role of de novo mutations (DNMs) and genetic profile in IEDs, we retrospectively reviewed a large cohort of proband-parent trios of Chinese origin. The patients underwent a detailed examination and was clinically diagnosed by an ophthalmologist. Panel-based targeted exome sequencing was performed on DNA extracted from blood samples, containing coding regions of 792 IED-causative genes and their flanking exons. All participants underwent genetic testing.<h4>Results</h4>All proband-parent trios were divided into 22 subgroups, the overall diagnostic yield wa"],"journal":["Investigative ophthalmology & visual science"],"pagination":["5"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9907368"],"repository":["biostudies-literature"],"pubmed_title":["De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases."],"pmcid":["PMC9907368"],"pubmed_authors":["Han XT","Jin X","Guo SC","He XD","Chen YX","Yang HM","Sun Y","Ma YT","Li W","Han DM","He W","Yang ZT","Wang ZS","Gao Y","Li JK"],"additional_accession":[]},"is_claimable":false,"name":"De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.","description":"<h4>Purpose</h4>The purpose of this study was to describe genotype-phenotype associations and novel insights into genetic characteristics in a trio-based cohort of inherited eye diseases (IEDs).<h4>Methods</h4>To determine the etiological role of de novo mutations (DNMs) and genetic profile in IEDs, we retrospectively reviewed a large cohort of proband-parent trios of Chinese origin. The patients underwent a detailed examination and was clinically diagnosed by an ophthalmologist. Panel-based targeted exome sequencing was performed on DNA extracted from blood samples, containing coding regions of 792 IED-causative genes and their flanking exons. All participants underwent genetic testing.<h4>Results</h4>All proband-parent trios were divided into 22 subgroups, the overall diagnostic yield wa","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Feb","modification":"2026-05-28T12:46:51.891Z","creation":"2025-04-05T19:41:35.963Z"},"accession":"S-EPMC9907368","cross_references":{"pubmed":["36729443"],"doi":["10.1167/iovs.64.2.5"]}}