Trio Whole Exome Sequencing of Rare Disease
Authors : Ivan William Harsono, Yulia Ariani, Beben Benyamin Disclaimer : Citation and publication of this data directly in any kind of research paper is prohibited without Author's consent is prohibited. Please kindly send your inquiry / request to : yulia.ariani@ui.ac.id Whole exome sequencing data of trio samples isolated from patients with a suspected undiagnosed functional rare disease in Cipto Mangunkusumo Referral Hospital. Undiagnosed functional rare disease means there is no conclusive result about the mutation after conventional genetic testing, thus requiring NGS such as Whole Exome Sequencing. This data has been analyzed using an in-house bioinformatics pipeline for rare disease analysis, and the paper(s) explaining the case reports, data paper, and related bioinformatic paper are currently under consideration for publication.