EGAGenomicsWhole Genome Sequencinghttps://ega-archive.org/studies/EGAS00001007575EGAEGA study EGAS00001007575Illumina genome sequencing data for HICF2 craniosynostosis families (Genome Medicine)EGArestrictedOrphan Disease, Orphan, Disease, Rare, Complete, Complete Genome, Whole Genome, Whole, Rare Disease., Complete Genome Sequencing, Genome Sequencing, Orphan Diseases, SequencingAntemortem Diagnoses, screening, WGS, Disease, Antemortem Diagnosis, findings, cou, determination, Genome Sequencing, Tl3, Diagnosis, Tl2, Client, Examination and Diagnoses, results, Diagnoses, WGS., Lr, Complete Genome, Postmortem, Screenings, Mass Screenings, Examinations and Diagnoses, chemical analysis, Mass, symptoms, Screening, Low, Antemortem, Postmortem Diagnosis, region, Rare Disease, Orphan Disease, Diagnoses and Examination, Postmortem Diagnoses, me75, Complete, Whole Genome, Genomes, Complete Genome Sequencing, signs, whole genome, Diagnoses and Examinations, D17Mit170, Sequencing, T1, Orphan, Rare, Patient, Clients, Whole, Bra, site, assay, Orphan Diseases, DiagnosefalseStructural and Non-Coding Variants Increase the Diagnostic Yield of Clinical Whole Genome Sequencing for Rare DiseasesAlthough whole genome sequencing is increasingly used for the diagnosis of patients with rare disease, diagnostic yields often disappointingly low. We undertook WGS on a cohort of 122 unrelated RD patients and applied a bioinformatics pipeline that would allow an in-depth interrogation of the genome to provide a comprehensive analysis of all variant types. Our results demonstrate that structural, splice-site and intronic variants make a substantial contribution to diagnostic yield and therefore that comprehensive analysis of the entire genome is essential to maximise the value of clinical WGS.2023-09-15 14:47:13EGAS000010075759606EGAD00001011373EGAC00001003438