{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["10"],"submitter":["Colin E"],"pubmed_abstract":["<b>Purpose:</b> Patients with rare or ultra-rare genetic diseases, which affect 350 million people worldwide, may experience a diagnostic odyssey. High-throughput sequencing leads to an etiological diagnosis in up to 50% of individuals with heterogeneous neurodevelopmental or malformation disorders. There is a growing interest in additional omics technologies in translational research settings to examine the remaining unsolved cases. <b>Methods:</b> We gathered 30 individuals with malformation syndromes and/or severe neurodevelopmental disorders with negative trio exome sequencing and array comparative genomic hybridization results through a multicenter project. We applied short-read genome sequencing, total RNA sequencing, and DNA methylation analysis, in that order, as complementary tran"],"journal":["Frontiers in cell and developmental biology"],"pagination":["1021785"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9650323"],"repository":["biostudies-literature"],"pubmed_title":["OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants."],"pmcid":["PMC9650323"],"pubmed_authors":["Chevarin M","Relator R","Keren B","McConkey H","Bourgeois V","Mignot C","Faivre L","Duffourd Y","Boland A","Denomme-Pichon AS","Poe C","Delanne J","Callier P","Tran Mau-Them F","Faudet A","Tisserant E","Charles P","Jean-Marcais N","Sadikovic B","Colin E","Bruel AL","Safraou H","Vitobello A","Vincent M","Afenjar A","Thauvin-Robinet C","Heron D","Isidor B","Heide S","Philippe C","Deleuze JF","Olaso R","Odent S","Kerkhof J","Herenger Y","Sorlin A","Moutton S","Couturier V"],"additional_accession":[]},"is_claimable":false,"name":"OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants.","description":"<b>Purpose:</b> Patients with rare or ultra-rare genetic diseases, which affect 350 million people worldwide, may experience a diagnostic odyssey. High-throughput sequencing leads to an etiological diagnosis in up to 50% of individuals with heterogeneous neurodevelopmental or malformation disorders. There is a growing interest in additional omics technologies in translational research settings to examine the remaining unsolved cases. <b>Methods:</b> We gathered 30 individuals with malformation syndromes and/or severe neurodevelopmental disorders with negative trio exome sequencing and array comparative genomic hybridization results through a multicenter project. We applied short-read genome sequencing, total RNA sequencing, and DNA methylation analysis, in that order, as complementary tran","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022","modification":"2026-07-14T15:21:30.424Z","creation":"2024-10-19T05:12:42.38Z"},"accession":"S-EPMC9650323","cross_references":{"pubmed":["36393831"],"doi":["10.3389/fcell.2022.1021785"]}}