Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Henrik StranneheimKristina Lagerstedt-RobinsonMåns MagnussonMalin KvarnungDaniel NilssonNicole LeskoMartin EngvallBritt-Marie AnderlidHenrik ArnellCarolina Backman JohanssonMichela BarbaroErik BjörckHelene BruhnJesper EisfeldtChristoph FreyerGiedre GrigelionienePeter GustavssonAnna HammarsjöMaritta Hellström-PiggErik IwarssonAnders JemtMikael LaaksonenSara Lind EnokssonHelena MalmgrenKarin NaessMagnus NordenskjöldMikael OscarsonMaria PetterssonChiara RasiAdam RosenbaumEllika SahlinEliane SardhTommy StödbergBianca TesiEmma ThamHåkan ThonbergVirpi TöhönenUlrika von DöbelnDaphne VassiliouSofie VonlanthenAnn-Charlotte WikströmJosephine WincentOla WinqvistAnna WredenbergSofia YgbergRolf H ZetterströmPer MaritsMaria Johansson SollerAnn NordgrenValtteri WirtaAnna LindstrandAnna LindstrandPublished in: Genome medicine (2021)
Clinical WGS at GMCK-RD has provided molecular diagnoses to over 1200 individuals with a broad range of rare diseases. Consolidation and spread of this clinical-academic partnership will enable large-scale national collaboration.