首页> Genetics in medicine : official journal of the American College of Medical Genetics> Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia.

Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia.

导出 OA

翻译打印收藏纠错

第一作者： Maris,Alver

第一单位： Estonian Genome Center, Institute of Genomics, University of Tartu, Tartu, Estonia.;Department of Biotechnology, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia.

作者： Maris,Alver ^[1] ; Marili,Palover ^[1] ; Aet,Saar ^[2] ; Kristi,Läll ^[3] ; Seyedeh Maryam,Zekavat ^[4] ; Neeme,Tõnisson ^[5] ; Liis,Leitsalu ^[6] ; Anu,Reigo ^[6] ; Tiit,Nikopensius ^[6] ; Tiia,Ainla ^[2] ; Mart,Kals ^[3] ; Reedik,Mägi ^[6] ; Stacey B,Gabriel ^[7] ; Jaan,Eha ^[8] ; Eric S,Lander ^[7] ; Alar,Irs ^[9] ; Anthony,Philippakis ^[7] ; Toomas,Marandi ^[2] ; Pradeep,Natarajan ^[10] ; Andres,Metspalu ^[1] ; Sekar,Kathiresan ^[10] ; Tõnu,Esko ^[11]

作者单位： Estonian Genome Center, Institute of Genomics, University of Tartu, Tartu, Estonia.;Department of Biotechnology, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia. ^[1] Department of Cardiology, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.;Cardiology Centre, North Estonia Medical Centre, Tallinn, Estonia. ^[2] Estonian Genome Center, Institute of Genomics, University of Tartu, Tartu, Estonia.;Institute of Mathematics and Statistics, University of Tartu, Tartu, Estonia. ^[3] Broad Institute of Harvard and MIT, Cambridge, MA, USA.;Yale School of Medicine, New Haven, CT, USA. ^[4] Estonian Genome Center, Institute of Genomics, University of Tartu, Tartu, Estonia.;Department of Clinical Genetics in Tallinn, United Laboratories, Tartu University Hospital, Tartu, Estonia. ^[5] Estonian Genome Center, Institute of Genomics, University of Tartu, Tartu, Estonia. ^[6] Broad Institute of Harvard and MIT, Cambridge, MA, USA. ^[7] Department of Cardiology, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.;Heart Clinic, Tartu University Hospital, Tartu, Estonia. ^[8] Heart Clinic, Tartu University Hospital, Tartu, Estonia. ^[9] Broad Institute of Harvard and MIT, Cambridge, MA, USA.;Cardiovascular Research Center and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.;Department of Medicine, Harvard Medical School, Boston, MA, USA. ^[10] Estonian Genome Center, Institute of Genomics, University of Tartu, Tartu, Estonia. tesko@broadinstitute.org.;Broad Institute of Harvard and MIT, Cambridge, MA, USA. tesko@broadinstitute.org. ^[11]

关键词 cascade screening familial hypercholesterolemia genomics-guided disease management population-based biobank recall by genotype