Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

导出 OA

翻译打印收藏纠错

第一作者： Eden V,Haverfield

第一单位： Invitae, 1400 16th Street, San Francisco, CA, 94103, USA. eden.haverfield@invitae.com.

作者： Eden V,Haverfield ^[1] ; Edward D,Esplin ^[2] ; Sienna J,Aguilar ^[2] ; Kathryn E,Hatchell ^[2] ; Kelly E,Ormond ^[3] ; Andrea,Hanson-Kahn ^[3] ; Paldeep S,Atwal ^[4] ; Sarah,Macklin-Mantia ^[5] ; Stephanie,Hines ^[5] ; Caron W-M,Sak ^[6] ; Steven,Tucker ^[6] ; Steven B,Bleyl ^[7] ; Peter J,Hulick ^[8] ; Ora K,Gordon ^[9] ; Lea,Velsher ^[10] ; Jessica Y J,Gu ^[10] ; Scott M,Weissman ^[11] ; Teresa,Kruisselbrink ^[12] ; Christopher,Abel ^[13] ; Michele,Kettles ^[13] ; Anne,Slavotinek ^[14] ; Bryce A,Mendelsohn ^[15] ; Robert C,Green ^[16] ; Swaroop,Aradhya ^[2] ; Robert L,Nussbaum ^[17]

作者单位： Invitae, 1400 16th Street, San Francisco, CA, 94103, USA. eden.haverfield@invitae.com. ^[1] Invitae, 1400 16th Street, San Francisco, CA, 94103, USA. ^[2] Stanford University School of Medicine, Stanford, CA, USA. ^[3] Mayo Clinic, Jacksonville, FL, USA.;Atwal Clinic, Palm Beach, FL, USA.;PWNHealth, New York, NY, USA. ^[4] Mayo Clinic, Jacksonville, FL, USA. ^[5] Tucker Medical, Singapore, Singapore. ^[6] Genome Medical, San Francisco, CA, USA. ^[7] NorthShore University HealthSystem, Chicago, IL, USA. ^[8] Providence Research Network, St John Cancer Institute, Los Angeles, CA, USA.;University of California, Los Angeles, CA, USA. ^[9] Medcan, Toronto, Ontario, Canada. ^[10] Genome Medical, San Francisco, CA, USA.;Chicago Genetic Consultants, Northbrook, IL, USA. ^[11] Mayo Clinic, Rochester, MN, USA. ^[12] Cooper Clinic, Dallas, TX, USA. ^[13] University of California San Francisco, San Francisco, CA, USA. ^[14] Kaiser Permanente, Oakland, CA, USA. ^[15] Brigham and Women's Hospital, Boston, MA, USA.;The Broad Institute, Boston, MA, USA.;Ariadne Labs, Boston, MA, USA.;Harvard Medical School, Boston, MA, USA. ^[16] Invitae, 1400 16th Street, San Francisco, CA, 94103, USA.;Volunteer Faculty, University of California San Francisco, San Francisco, CA, USA. ^[17]

关键词 Cardiovascular disorders Clinical genetics Hereditary cancer syndromes Monogenic disorders Population screening Proactive genetic screening

主题词成年人(Adult);队列研究(Cohort Studies);疾病遗传易感性(Genetic Predisposition to Disease);基因检测(Genetic Testing);基因组学(Genomics);人类(Humans);医师(Physicians)

DOI 10.1186/s12916-021-01999-2

PMID 34404389

发布时间 2021-11-04

翻译满意度评价：

准确一般字义偏差语意偏离译文作用小提交