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Evaluating use of changing technologies for rapid next-generation sequencing in pediatrics.

Autor: Palmquist R; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA. rachel.palmquist@hsc.utah.edu.; Primary Children's Center for Personalized Medicine, Salt Lake City, UT, USA. rachel.palmquist@hsc.utah.edu., Jenkins SM; Primary Children's Center for Personalized Medicine, Salt Lake City, UT, USA.; Division of Neonatology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA., Bentley D; Division of Neonatology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA., Miller C; ARUP Laboratories, Salt Lake City, UT, USA., Mao R; ARUP Laboratories, Salt Lake City, UT, USA.; Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA., Meibos B; Primary Children's Center for Personalized Medicine, Salt Lake City, UT, USA., Bayrak-Toydemir P; ARUP Laboratories, Salt Lake City, UT, USA.; Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA., Tvrdik T; Department of Pathology and Laboratory Medicine, Emory University, Atlanta, GA, USA., Nadauld LD; Intermountain Precision Genomics, Intermountain Healthcare, St. George, UT, USA., Bleyl SB; Division of Pediatric Cardiology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.; Genome Medical Services, South San Francisco, CA, USA., Chowdhury S; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego, San Diego, CA, USA., Ostrander B; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA., Flores-Daboub J; Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, UT, USA., Longo N; Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, UT, USA., Tristani-Firouzi M; Division of Pediatric Cardiology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA., Hobbs C; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego, San Diego, CA, USA., Bonkowsky JL; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.; Primary Children's Center for Personalized Medicine, Salt Lake City, UT, USA., Brunelli L; Division of Neonatology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.

Publikováno v: Pediatric research [Pediatr Res] 2022 Nov; Vol. 92 (5), pp. 1364-1369. Date of Electronic Publication: 2022 Feb 03.

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

Autor: Haverfield EV; Invitae, 1400 16th Street, San Francisco, CA, 94103, USA. eden.haverfield@invitae.com., Esplin ED; Invitae, 1400 16th Street, San Francisco, CA, 94103, USA., Aguilar SJ; Invitae, 1400 16th Street, San Francisco, CA, 94103, USA., Hatchell KE; Invitae, 1400 16th Street, San Francisco, CA, 94103, USA., Ormond KE; Stanford University School of Medicine, Stanford, CA, USA., Hanson-Kahn A; Stanford University School of Medicine, Stanford, CA, USA., Atwal PS; Mayo Clinic, Jacksonville, FL, USA.; Atwal Clinic, Palm Beach, FL, USA.; PWNHealth, New York, NY, USA., Macklin-Mantia S; Mayo Clinic, Jacksonville, FL, USA., Hines S; Mayo Clinic, Jacksonville, FL, USA., Sak CW; Tucker Medical, Singapore, Singapore., Tucker S; Tucker Medical, Singapore, Singapore., Bleyl SB; Genome Medical, San Francisco, CA, USA., Hulick PJ; NorthShore University Health System, Chicago, IL, USA., Gordon OK; Providence Research Network, St John Cancer Institute, Los Angeles, CA, USA.; University of California, Los Angeles, CA, USA., Velsher L; Medcan, Toronto, Ontario, Canada., Gu JYJ; Medcan, Toronto, Ontario, Canada., Weissman SM; Genome Medical, San Francisco, CA, USA.; Chicago Genetic Consultants, Northbrook, IL, USA., Kruisselbrink T; Mayo Clinic, Rochester, MN, USA., Abel C; Cooper Clinic, Dallas, TX, USA., Kettles M; Cooper Clinic, Dallas, TX, USA., Slavotinek A; University of California San Francisco, San Francisco, CA, USA., Mendelsohn BA; Kaiser Permanente, Oakland, CA, USA., Green RC; 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., Aradhya S; Invitae, 1400 16th Street, San Francisco, CA, 94103, USA., Nussbaum RL; Invitae, 1400 16th Street, San Francisco, CA, 94103, USA.; Volunteer Faculty, University of California San Francisco, San Francisco, CA, USA.

Publikováno v: BMC medicine [BMC Med] 2021 Nov 03; Vol. 19 (1), pp. 288. Date of Electronic Publication: 2021 Nov 03.

A qualitative study of prevalent laboratory information systems and data communication patterns for genetic test reporting.

Autor: Khalifa A; Department of Biomedical Informatics, School of Medicine, University of Utah, Salt Lake City, UT, USA. aly.khalifa@utah.edu., Mason CC; Department of Pediatrics, School of Medicine, University of Utah, Salt Lake City, UT, USA., Garvin JH; Department of Biomedical Informatics, School of Medicine, University of Utah, Salt Lake City, UT, USA.; Health Information Management and Systems Division, School of Health and Rehabilitation Sciences, The Ohio State University, Columbus, OH, USA.; Indianapolis VA Medical Center, Indianapolis, IN, USA., Williams MS; Genomic Medicine Institute, Geisinger, Danville, PA, USA., Del Fiol G; Department of Biomedical Informatics, School of Medicine, University of Utah, Salt Lake City, UT, USA., Jackson BR; Department of Biomedical Informatics, School of Medicine, University of Utah, Salt Lake City, UT, USA.; ARUP Laboratories, Salt Lake City, UT, USA., Bleyl SB; Department of Pediatrics, School of Medicine, University of Utah, Salt Lake City, UT, USA.; Genome Medical Services, San Francisco, CA, USA., Huff SM; Department of Biomedical Informatics, School of Medicine, University of Utah, Salt Lake City, UT, USA.; Department of Biomedical Informatics, Intermountain Healthcare, Murray, UT, USA.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Nov; Vol. 23 (11), pp. 2171-2177. Date of Electronic Publication: 2021 Jul 06.