The Singapore Undiagnosed Disease Program is a multi-center, prospective cohort study of individuals with suspected genetic disorders. The program was set up in 2014, and has recruited over 690 patients (majority as trios) who have undergone a combination of targeted panel, whole exome, whole genome, transcriptome or long read whole genome sequencing. In conjunction with the genomic data, phenotypic data is available for all the patients. This includes demographics, medical diagnosis, laboratory, histopathological and imaging data. Organisation: KK Women’s and Children’s Hospital, Singapore PIs and/or contributors: Saumya Jamuar, Weng Khong Lim Study or Lab webpage: https://www.singhealthdukenus.com.sg/research/prism DOI or Publication: 10.1136/archdischild-2020-319180 Contact (e-mail or website): prism@singhealth.com.sg
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KKH - Singapore Undiagnosed Disease Program is published on HiFi Solves.