{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T13:24:06Z","timestamp":1792416246158,"version":"4.4.0"},"reference-count":177,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2021,5,26]],"date-time":"2021-05-26T00:00:00Z","timestamp":1621987200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Fighting Blindness Ireland","award":["FB18CRE"],"award-info":[{"award-number":["FB18CRE"]}]},{"name":"Fighting Blindness Ireland","award":["FB16FAR"],"award-info":[{"award-number":["FB16FAR"]}]},{"name":"The Health Research Board of Ireland","award":["HRB; POR\/2010\/97"],"award-info":[{"award-number":["HRB; POR\/2010\/97"]}]},{"name":"Health Research Charities Ireland","award":["HRCI; MRCG-2013-8, MRCG-2016-14"],"award-info":[{"award-number":["HRCI; MRCG-2013-8, MRCG-2016-14"]}]},{"name":"The Irish Research Council","award":["IRC; GOIPG\/2017\/1631"],"award-info":[{"award-number":["IRC; GOIPG\/2017\/1631"]}]},{"DOI":"10.13039\/501100001602","name":"Science Foundation Ireland","doi-asserted-by":"publisher","award":["SFI; 16\/1A\/4452"],"award-info":[{"award-number":["SFI; 16\/1A\/4452"]}],"id":[{"id":"10.13039\/501100001602","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Inherited retinal diseases (IRDs) represent a collection of phenotypically and genetically diverse conditions. IRDs phenotype(s) can be isolated to the eye or can involve multiple tissues. These conditions are associated with diverse forms of inheritance, and variants within the same gene often can be associated with multiple distinct phenotypes. Such aspects of the IRDs highlight the difficulty met when establishing a genetic diagnosis in patients. Here we provide an overview of cutting-edge next-generation sequencing techniques and strategies currently in use to maximise the effectivity of IRD gene screening. These techniques have helped researchers globally to find elusive causes of IRDs, including copy number variants, structural variants, new IRD genes and deep intronic variants, among others. Resolving a genetic diagnosis with thorough testing enables a more accurate diagnosis and more informed prognosis and should also provide information on inheritance patterns which may be of particular interest to patients of a child-bearing age. Given that IRDs are heritable conditions, genetic counselling may be offered to help inform family planning, carrier testing and prenatal screening. Additionally, a verified genetic diagnosis may enable access to appropriate clinical trials or approved medications that may be available for the condition.<\/jats:p>","DOI":"10.3390\/ijms22115684","type":"journal-article","created":{"date-parts":[[2021,5,26]],"date-time":"2021-05-26T21:56:44Z","timestamp":1622066204000},"page":"5684","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":59,"title":["Next-Generation Sequencing Applications for Inherited Retinal Diseases"],"prefix":"10.3390","volume":"22","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3423-2542","authenticated-orcid":false,"given":"Adrian","family":"Dockery","sequence":"first","affiliation":[{"name":"The School of Genetics & Microbiology, Trinity College Dublin, Dublin 2, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0537-4349","authenticated-orcid":false,"given":"Laura","family":"Whelan","sequence":"additional","affiliation":[{"name":"The School of Genetics & Microbiology, Trinity College Dublin, Dublin 2, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pete","family":"Humphries","sequence":"additional","affiliation":[{"name":"The School of Genetics & Microbiology, Trinity College Dublin, Dublin 2, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G. Jane","family":"Farrar","sequence":"additional","affiliation":[{"name":"The School of Genetics & Microbiology, Trinity College Dublin, Dublin 2, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,5,26]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Dockery, A., Stephenson, K., Keegan, D., Wynne, N., Silvestri, G., Humphries, P., Kenna, P.F., Carrigan, M., and Farrar, G.J. (2017). Target 5000: Target Capture Sequencing for Inherited Retinal Degenerations. Genes, 8.","DOI":"10.3390\/genes8110304"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1155\/2016\/6341870","article-title":"Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing","volume":"2016","author":"Bernardis","year":"2016","journal-title":"BioMed Res. 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