{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Mendez-Vidal C"],"funding":["Instituto de Salud Carlos III","Universidad de Sevilla","Consejería de Salud y Familias, Junta de Andalucía","Fundación Isabel Gemio"],"pagination":["86"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11748347"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["23(1)"],"pubmed_abstract":["Background
Despite the use of Next-Generation Sequencing (NGS) as the gold standard for the diagnosis of rare diseases, its clinical implementation has been challenging, limiting the cost-effectiveness of NGS and the understanding, control and safety essential for decision-making in clinical applications. Here, we describe a personalized NGS-based strategy integrating precision medicine into a public healthcare system and its implementation in the routine diagnosis process during a five-year pilot program.Methods
Our approach involved customized probe designs, the generation of virtual panels and the development of a personalized medicine module (PMM) for variant prioritization. This strategy was applied to 6500 individuals including 6267 index patients and 233 NGS-based ca"],"journal":["Journal of translational medicine"],"pubmed_title":["A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice."],"pmcid":["PMC11748347"],"funding_grant_id":["FI19/00091","FGEMIO-2019-01","IMP-0009","PI21-00244","PEER-0470-2019","P20_00887","RH-0049-2021","PEER-0501-2019","PI19-01550","PI22-01428"],"pubmed_authors":["Mendez-Vidal C","Antinolo G","Borrego S","Gonzalez-Del Pozo M","Dopazo J","Carmona R","Martin-Sanchez M","Bravo-Gil N","Fernandez-Suarez E","Perez-Florido J","Fernandez-Rueda JL","Marcos-Luque I","Fernandez RM","Mena M"],"additional_accession":[]},"is_claimable":false,"name":"A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice.","description":"Background
Despite the use of Next-Generation Sequencing (NGS) as the gold standard for the diagnosis of rare diseases, its clinical implementation has been challenging, limiting the cost-effectiveness of NGS and the understanding, control and safety essential for decision-making in clinical applications. Here, we describe a personalized NGS-based strategy integrating precision medicine into a public healthcare system and its implementation in the routine diagnosis process during a five-year pilot program.Methods
Our approach involved customized probe designs, the generation of virtual panels and the development of a personalized medicine module (PMM) for variant prioritization. This strategy was applied to 6500 individuals including 6267 index patients and 233 NGS-based ca","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Jan","modification":"2025-04-22T10:23:14.458Z","creation":"2025-04-05T23:35:57.883Z"},"accession":"S-EPMC11748347","cross_references":{"pubmed":["39833864"],"doi":["10.1186/s12967-025-06069-2"]}}