Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical Management.
Neha S BhatiaJiin Ying LimCarine BonnardJyn-Ling KuanMaggie BrettHeming WeiBreana ChamHuilin ChinCelia Bosso-LefevrePerumal DharumanNathalie Escande-BeillardArun George DevasiaChew Yin Jasmine GohSylvia KamWendy Kein-Meng LiewWoei Kang LiewGrace LinKanika JainAlvin Yu-Jin NgDeepa SubramanianMin XieYuen-Ming TanNilesh R TawariZenia TiangTeck Wah TingSumanty TohariCheuk Ka TongAlexander LezhavaSarah B NgHai Yang LawByrappa VenkateshSwati TomarRaman SethiGrace TanArthi ShanmugasundaramDenise Li-Meng GohPoh-San LaiAngeline LaiEe Shien TanIvy NgBruno ReversadesEne Choo TanRoger FooSaumya Shekhar Jamuarnull nullPublished in: Archives of disease in childhood (2020)
Genomic sequencing is an effective method for diagnosing rare disease or previous 'undiagnosed' disease. The clinical utility of WES/WGS is seen in the shortened time to diagnosis and the discovery of novel variants. Additionally, reaching a diagnosis significantly impacts families and leads to alteration in management of these patients.