{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["19(1)"],"submitter":["Heredia-Torrejon M"],"funding":["Universidad de Cadiz"],"pubmed_abstract":["The diagnostic odysseys for rare disease patients are getting shorter as next-generation sequencing becomes more widespread. However, the complex genetic diversity and factors influencing expressivity continue to challenge accurate diagnosis, leaving more than 50% of genetic variants categorized as variants of uncertain significance.Genomic expression intricately hinges on localized interactions among its products. Conventional variant prioritization, biased towards known disease genes and the structure-function paradigm, overlooks the potential impact of variants shaping the composition, location, size, and properties of biomolecular condensates, genuine membraneless organelles swiftly sensing and responding to environmental changes, and modulating expressivity.To address this complexity,"],"journal":["Orphanet journal of rare diseases"],"pagination":["327"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11380411"],"repository":["biostudies-literature"],"pubmed_title":["VUS next in rare diseases? Deciphering genetic determinants of biomolecular condensation."],"pmcid":["PMC11380411"],"pubmed_authors":["Lechuga-Sancho AM","Gonzalez-Meneses A","Medina MA","Heredia-Torrejon M","Montanez R","Carcavilla A"],"additional_accession":[]},"is_claimable":false,"name":"VUS next in rare diseases? Deciphering genetic determinants of biomolecular condensation.","description":"The diagnostic odysseys for rare disease patients are getting shorter as next-generation sequencing becomes more widespread. However, the complex genetic diversity and factors influencing expressivity continue to challenge accurate diagnosis, leaving more than 50% of genetic variants categorized as variants of uncertain significance.Genomic expression intricately hinges on localized interactions among its products. Conventional variant prioritization, biased towards known disease genes and the structure-function paradigm, overlooks the potential impact of variants shaping the composition, location, size, and properties of biomolecular condensates, genuine membraneless organelles swiftly sensing and responding to environmental changes, and modulating expressivity.To address this complexity,","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Sep","modification":"2026-06-03T03:39:08.652Z","creation":"2025-04-03T23:56:00.1Z"},"accession":"S-EPMC11380411","cross_references":{"pubmed":["39243101"],"doi":["10.1186/s13023-024-03307-6"]}}