{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Aspromonte MC"],"funding":["European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability","European Union-NextGenerationEU through 'Italiadomani-PNRR' project CN - G.T.RNA SP. 7 project - National Center for Gene Therapy and Drugs based on RNA Technology (CN3)","Università degli Studi di Padova","European Union—NextGenerationEU through ‘Italiadomani—PNRR’ project CN - G.T.RNA SP. 7 project - National Center for Gene Therapy and Drugs based on RNA Technology"],"pagination":["309-326"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11976335"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["144(2-3)"],"pubmed_abstract":["Neurodevelopmental disorders (NDDs) are common conditions including clinically diverse and genetically heterogeneous diseases, such as intellectual disability, autism spectrum disorders, and epilepsy. The intricate genetic underpinnings of NDDs pose a formidable challenge, given their multifaceted genetic architecture and heterogeneous clinical presentations. This work delves into the intricate interplay between genetic variants and phenotypic manifestations in neurodevelopmental disorders, presenting a dataset curated for the Critical Assessment of Genome Interpretation (CAGI6) ID Panel Challenge. The CAGI6 competition serves as a platform for evaluating the efficacy of computational methods in predicting phenotypic outcomes from genetic data. In this study, a targeted gene panel sequenci"],"journal":["Human genetics"],"pubmed_title":["Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge."],"pmcid":["PMC11976335"],"funding_grant_id":["MUR CN00000041, C.F. 92315700283","3HP-HP-FPA ERN-01-2016/739516"],"pubmed_authors":["Granocchio E","D'Arrigo S","Mammi I","Leonardi E","Bettella E","Nosadini M","Aspromonte MC","Milani D","Soli F","Murgia A","Benedicenti F","Ciaccio C","Del Conte A","Bigoni S","Boni S","Negrin S","Stanzial F","Tosatto SCE","Donati I","Polli R","Turolla L","Piovesan D","Baldo D"],"additional_accession":[]},"is_claimable":false,"name":"Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge.","description":"Neurodevelopmental disorders (NDDs) are common conditions including clinically diverse and genetically heterogeneous diseases, such as intellectual disability, autism spectrum disorders, and epilepsy. The intricate genetic underpinnings of NDDs pose a formidable challenge, given their multifaceted genetic architecture and heterogeneous clinical presentations. This work delves into the intricate interplay between genetic variants and phenotypic manifestations in neurodevelopmental disorders, presenting a dataset curated for the Critical Assessment of Genome Interpretation (CAGI6) ID Panel Challenge. The CAGI6 competition serves as a platform for evaluating the efficacy of computational methods in predicting phenotypic outcomes from genetic data. In this study, a targeted gene panel sequenci","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Mar","modification":"2026-06-01T20:14:33.075Z","creation":"2026-05-20T03:08:27.907Z"},"accession":"S-EPMC11976335","cross_references":{"pubmed":["40019509"],"doi":["10.1007/s00439-025-02733-1"]}}