المؤلفون: Brownstein, CA, Beggs, AH, Homer, N, Merriman, B, Yu, TW, Flannery, KC, DeChene, ET, Towne, MC, Savage, SK, Price, EN, Holm, IA, Luquette, LJ, Lyon, E, Majzoub, J, Neupert, P, McCallie, D, Szolovits, P, Willard, HF, Mendelsohn, NJ, Temme, R, Finkel, RS, Yum, SW, Medne, L, Sunyaev, SR, Adzhubey, I, Cassa, CA, de Bakker, PIW, Duzkale, H, Dworzynski, P, Fairbrother, W, Francioli, L, Funke, BH, Giovanni, MA, Handsaker, RE, Lage, K, Lebo, MS, Lek, M, Leshchiner, I, MacArthur, DG, McLaughlin, HM, Murray, MF, Pers, TH, Polak, PP, Raychaudhuri, S, Rehm, HL, Soemedi, R, Stitziel, NO, Vestecka, S, Supper, J, Gugenmus, C, Klocke, B, Hahn, A, Schubach, M, Menzel, M, Biskup, S, Freisinger, P, Deng, M, Braun, M, Perner, S, Smith, RJH, Andorf, JL, Huang, J, Ryckman, K, Sheffield, VC, Stone, EM, Bair, T, Black-Ziegelbein, EA, Braun, TA, Darbro, B, DeLuca, AP, Kolbe, DL, Scheetz, TE, Shearer, AE, Sompallae, R, Wang, K, Bassuk, AG, Edens, E, Mathews, K, Moore, SA, Shchelochkov, OA, Trapane, P, Bossler, A, Campbell, CA, Heusel, JW, Kwitek, A, Maga, T, Panzer, K, Wassink, T, Van Daele, D, Azaiez, H, Booth, K, Meyer, N, Segal, MM, Williams, MS, Tromp, G, White, P, Corsmeier, D, Fitzgerald-Butt, S, Herman, G, Lamb-Thrush, D, McBride, KL, Newsom, D, Pierson, CR, Rakowsky, AT, Maver, A, Lovrecic, L, Palandacic, A, Peterlin, B, Torkamani, A, Wedell, A, Huss, M, Alexeyenko, A, Lindvall, JM, Magnusson, M, Nilsson, D, Stranneheim, H, Taylan, F, Gilissen, C, Hoischen, A, van Bon, B, Yntema, H, Nelen, M, Zhang, WD, Sager, J, Zhang, L, Blair, K, Kural, D, Cariaso, M, Lennon, GG, Javed, A, Agrawal, S, Ng, PC, Sandhu, KS, Krishna, S, Veeramachaneni, V, Isakov, O, Halperin, E, Friedman, E, Shomron, N, Glusman, G, Roach, JC, Caballero, J, Cox, HC, Mauldin, D, Ament, SA, Rowen, L, Richards, DR, San Lucas, FA, Gonzalez-Garay, ML, Caskey, CT, Bai, Y, Huang, Y, Fang, F, Zhang, Y, Wang, ZY, Barrera, J, Garcia-Lobo, JM, Gonzalez-Lamuno, D, Llorca, J, Rodriguez, MC, Varela, I, Reese, MG, De la Vega, FM, Kiruluta, E, Cargill, M, Hart, RK, Sorenson, JM, Lyon, GJ, Stevenson, DA, Bray, BE, Moore, BM, Eilbeck, K, Yandell, M, Zhao, HY, Hou, L, Chen, XW, Yan, XT, Chen, MJ, Li, C, Yang, C, Gunel, M, Li, PN, Kong, Y, Alexander, AC, Albertyn, ZI, Boycott, KM, Bulman, DE, Gordon, PMK, Innes, AM, Knoppers, BM, Majewski, J, Marshall, CR, Parboosingh, JS, Sawyer, SL, Samuels, ME, Schwartzentruber, J, Kohane, IS, Margulies, DM

المصدر: Genome biology. 15(3):R53

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:129420736

المؤلفون: Duzkale, H, Shen, J, McLaughlin, H, Alfares, A, Kelly, MA, Pugh, TJ, Funke, BH, Rehm, HL, Lebo, MS

مصطلحات موضوعية: Male, Base Sequence, Decision Trees, Molecular Sequence Data, Genetic Variation, High-Throughput Nucleotide Sequencing, Prognosis, Risk Assessment, Article, Databases, Genetic, Humans, Female, Genetic Testing, RNA, Messenger, Algorithms, Software

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::29ff0ff5fa40542b0c5d1ed383e49482
https://europepmc.org/articles/PMC3995020/

المؤلفون: Zhang Y; Division of General Medicine, Columbia University, New York, New York., Dron JS; Cardiovascular Disease Initiative, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge.; Center for Genomic Medicine, Massachusetts General Hospital, Boston., Bellows BK; Division of General Medicine, Columbia University, New York, New York., Khera AV; Cardiovascular Disease Initiative, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge.; Department of Medicine, Harvard Medical School, Boston, Massachusetts.; Division of Cardiology, Brigham and Women's Hospital, Boston, Massachusetts., Liu J; Department of Population Health Science and Policy, Icahn School of Medicine, Mount Sinai, New York, New York., Balte PP; Division of General Medicine, Columbia University, New York, New York., Oelsner EC; Division of General Medicine, Columbia University, New York, New York., Amr SS; Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.; Laboratory for Molecular Medicine, Personalized Medicine, Mass General Brigham, Cambridge, Massachusetts., Lebo MS; Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.; Laboratory for Molecular Medicine, Personalized Medicine, Mass General Brigham, Cambridge, Massachusetts., Nagy A; Laboratory for Molecular Medicine, Personalized Medicine, Mass General Brigham, Cambridge, Massachusetts., Peloso GM; Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts., Natarajan P; Cardiovascular Disease Initiative, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge.; Department of Medicine, Harvard Medical School, Boston, Massachusetts.; Department of Medicine, Massachusetts General Hospital, Boston., Rotter JI; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, California., Willer C; Department of Internal Medicine, University of Michigan, Ann Arbor.; Department of Human Genetics, University of Michigan, Ann Arbor.; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor., Boerwinkle E; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston., Ballantyne CM; Department of Medicine, Baylor College of Medicine, Houston, Texas., Lutsey PL; Division of Epidemiology & Community Health, School of Public Health, University of Minnesota, Minneapolis., Fornage M; The Brown Foundation Institute of Molecular Medicine, University of Texas Health Science Center at Houston., Lloyd-Jones DM; Northwestern University, Chicago, Illinois., Hou L; Northwestern University, Chicago, Illinois., Psaty BM; Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle.; Department of Epidemiology, University of Washington, Seattle.; Department of Health Systems and Population Health, University of Washington, Seattle., Bis JC; Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle., Floyd JS; Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle.; Department of Epidemiology, University of Washington, Seattle., Vasan RS; The Framingham Heart Study, Framingham, Massachusetts.; Section of Preventive Medicine and Epidemiology, Boston University School of Medicine, Boston, Massachusetts.; Department of Epidemiology, Boston University School of Public Health, Boston, Massachusetts., Heard-Costa NL; Department of Neurology, Boston University Chobanian & Avedisian School of Medicine, Boston, Massachusetts., Carson AP; Department of Medicine, University of Mississippi Medical Center, Jackson., Hall ME; Department of Medicine, University of Mississippi Medical Center, Jackson., Rich SS; Center for Public Health Genomics, University of Virginia, Charlottesville., Guo X; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, California., Kazi DS; Department of Medicine, Harvard Medical School, Boston, Massachusetts.; Richard A. and Susan F. Smith Center for Outcomes Research, Beth Israel Deaconess Medical Center, Boston, Massachusetts., de Ferranti SD; Department of Cardiology, Boston Children's Hospital, Boston, Massachusetts.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts., Moran AE; Division of General Medicine, Columbia University, New York, New York.

المصدر: JAMA cardiology [JAMA Cardiol] 2024 Mar 01; Vol. 9 (3), pp. 263-271.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Medical Association Country of Publication: United States NLM ID: 101676033 Publication Model: Print Cited Medium: Internet ISSN: 2380-6591 (Electronic) NLM ISO Abbreviation: JAMA Cardiol Subsets: MEDLINE

مواضيع طبية MeSH: Hypercholesterolemia*/complications , Cardiovascular Diseases*/prevention & control , Hyperlipoproteinemia Type II*/diagnosis , Coronary Artery Disease*/complications , Atherosclerosis*/complications, Young Adult ; Humans ; Female ; Middle Aged ; Male ; Cholesterol, LDL/genetics ; Cohort Studies ; Risk Factors ; Heart Disease Risk Factors

المؤلفون: Schmidt RJ; Children's Hospital Los Angeles, Keck School of Medicine of USC, Los Angeles, CA. Electronic address: rschmidt@chla.usc.edu., Steeves M; Color Health, Burlingame, CA., Bayrak-Toydemir P; Department of Pathology, University of Utah Molecular Genetics and Genomics, ARUP Laboratories, Salt Lake City, UT., Benson KA; School of Pharmacy and Biomolecular Sciences, Royal College of Surgeons in Ireland, Ireland., Coe BP; Department of Pathology & Lab Medicine, BC Children's & BC Women's Hospitals, Vancouver, Canada., Conlin LK; Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA., Ganapathi M; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY., Garcia J; Invitae, San Francisco, CA., Gollob MH; Inherited Arrhythmia and Cardiomyopathy Program, Division of Cardiology, Toronto General Hospital and Department of Physiology, University of Toronto, Toronto, Ontario, Canada., Jobanputra V; New York Genome Center, New York, NY; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY., Luo M; Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA., Ma D; DNA diagnostic lab, Department of Genetics, School of Medicine, Yale University, New Haven, CT., Maston G; Quest Diagnostics, Inc., Hillsboro, OR., McGoldrick K; Ambry Genetics, Aliso Viejo, CA., Palculict TB; GeneDx, Gaithersburg, MD., Pesaran T; Ambry Genetics, Aliso Viejo, CA., Pollin TI; University of Maryland School of Medicine, Baltimore, MD., Qian E; Department of Genetics, Yale University School of Medicine, New Haven, CT., Rehm HL; Center for Genomics Medicine, Massachusetts General Hospital, Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA., Riggs ER; Geisinger Autism & Developmental Medicine Institute, Lewisburg, PA., Schilit SLP; Mass General Brigham, Brigham and Woman's Hospital, Harvard Medical School, Boston, MA., Sergouniotis PI; Division of Evolution, Infection and Genomics, University of Manchester, Manchester, United Kingdom., Tvrdik T; Department of Pathology and Laboratory Medicine, Emory University School of Medicine, Atlanta, GA., Watkins N; Department of Pathology and Laboratory Medicine, Sinai Health System, Toronto, Ontario, Canada Department of Molecular Genetics, University of Toronto, Toronto, Canada., Zec L; Natera, Inc., Austin, TX., Zhang W; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH., Lebo MS; Mass General Brigham, Brigham and Woman's Hospital, Harvard Medical School, Broad Institute of MIT and Harvard, Cambridge, MA. Electronic address: mlebo@bwh.harvard.edu.

مؤلفون مشاركون: ClinGen Low Penetrance/Risk Allele Working Group

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Mar; Vol. 26 (3), pp. 101036. Date of Electronic Publication: 2023 Dec 03.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Variation*/genetics, Humans ; Alleles ; Penetrance ; Gene Frequency

المؤلفون: Rehm HL; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Pathology, Harvard Medical School, Boston, MA. Electronic address: hrehm@mgh.harvard.edu., Alaimo JT; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO; Department of Pediatrics, School of Medicine, University of Missouri, Kansas City, MO; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO., Aradhya S; Invitae, San Francisco, CA; Department of Pathology, Stanford University School of Medicine, Palo Alto, CA., Bayrak-Toydemir P; ARUP Laboratories, Salt Lake City, UT; Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT., Best H; ARUP Laboratories, Salt Lake City, UT; Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT., Brandon R; GeneDx, LLC, Gaithersburg, MD., Buchan JG; Genetics Division, Laboratory Medicine and Pathology, University of Washington, Seattle, WA., Chao EC; Ambry Genetics, Aliso Viejo, CA., Chen E; Invitae, San Francisco, CA., Clifford J; Ambry Genetics, Aliso Viejo, CA., Cohen ASA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO; Department of Pediatrics, School of Medicine, University of Missouri, Kansas City, MO; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO., Conlin LK; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA; Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA., Das S; Human Genetics, University of Chicago, Chicago, IL., Davis KW; Variantyx, Framingham, MA., Del Gaudio D; Human Genetics, University of Chicago, Chicago, IL., Del Viso F; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO., DiVincenzo C; Quest Diagnostics, Marlborough, MA., Eisenberg M; Women's Health and Genetics, Labcorp, Research Triangle Park, NC., Guidugli L; Rady Children's Institute for Genomic Medicine, San Diego, CA., Hammer MB; Rady Children's Institute for Genomic Medicine, San Diego, CA., Harrison SM; Ambry Genetics, Aliso Viejo, CA., Hatchell KE; Invitae, San Francisco, CA., Dyer LH; GeneDx, LLC, Gaithersburg, MD., Hoang LU; Ambry Genetics, Aliso Viejo, CA., Holt JM; HudsonAlpha Clinical Services Lab, LLC, Huntsville, AL., Jobanputra V; Molecular Diagnostics, New York Genome Center, New York, NY; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY., Karbassi ID; Quest Diagnostics, Marlborough, MA., Kearney HM; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Kelly MA; HudsonAlpha Clinical Services Lab, LLC, Huntsville, AL., Kelly JM; HudsonAlpha Clinical Services Lab, LLC, Huntsville, AL., Kluge ML; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Komala T; Ambry Genetics, Aliso Viejo, CA., Kruszka P; GeneDx, LLC, Gaithersburg, MD., Lau L; Division of Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada., Lebo MS; Pathology, Harvard Medical School, Boston, MA; Laboratory for Molecular Medicine, Mass General Brigham, Cambridge, MA., Marshall CR; Division of Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada., McKnight D; Invitae, San Francisco, CA., McWalter K; GeneDx, LLC, Gaithersburg, MD., Meng Y; Fulgent Genetics, Temple City, CA., Nagan N; Women's Health and Genetics, Labcorp, Westborough, MA., Neckelmann CS; Fulgent Genetics, Temple City, CA., Neerman N; Variantyx, Framingham, MA., Niu Z; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Paolillo VK; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO., Paolucci SA; Genetics Division, Laboratory Medicine and Pathology, University of Washington, Seattle, WA., Perry D; Illumina, Inc, San Diego, CA., Pesaran T; Ambry Genetics, Aliso Viejo, CA., Radtke K; Ambry Genetics, Aliso Viejo, CA., Rasmussen KJ; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Retterer K; GeneDx, LLC, Gaithersburg, MD., Saunders CJ; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO; Department of Pediatrics and Pathology, School of Medicine, University of Missouri, Kansas City, MO., Spiteri E; Department of Pathology, Stanford Medicine, Palo Alto, CA., Stanley C; Variantyx, Framingham, MA., Szuto A; Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada., Taft RJ; Illumina, Inc, San Diego, CA., Thiffault I; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO; Department of Pediatrics, School of Medicine, University of Missouri, Kansas City, MO; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO., Thomas BC; Illumina, Inc, San Diego, CA., Thomas-Wilson A; Molecular Diagnostics, New York Genome Center, New York, NY., Thorpe E; Illumina, Inc, San Diego, CA., Tidwell TJ; ARUP Laboratories, Salt Lake City, UT., Towne MC; Ambry Genetics, Aliso Viejo, CA., Zouk H; Pathology, Harvard Medical School, Boston, MA; Laboratory for Molecular Medicine, Mass General Brigham, Cambridge, MA.

مؤلفون مشاركون: Medical Genome Initiative Steering Committee

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Dec; Vol. 25 (12), pp. 100947. Date of Electronic Publication: 2023 Jul 30.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Predisposition to Disease* , Genetic Testing*/methods, Humans ; Genomics ; Exome/genetics ; North America

المؤلفون: Vassy JL; VA Boston Healthcare System, Boston, MA, USA; Division of General Internal Medicine and Primary Care, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; Broad Institute of Massachusetts Institute of Technology and Harvard University, Cambridge, MA, USA; Ariadne Labs, Boston, MA, USA. Electronic address: jvassy@bwh.harvard.edu., Brunette CA; VA Boston Healthcare System, Boston, MA, USA; Harvard Medical School, Boston, MA, USA., Lebo MS; Harvard Medical School, Boston, MA, USA; Laboratory for Molecular Medicine, Mass General Brigham, Boston, MA, USA; Department of Pathology, Brigham and Women's Hospital, Boston, MA, USA., MacIsaac K; VA Boston Healthcare System, Boston, MA, USA., Yi T; VA Boston Healthcare System, Boston, MA, USA., Danowski ME; VA Boston Healthcare System, Boston, MA, USA., Alexander NVJ; VA Boston Healthcare System, Boston, MA, USA; Bucharest University Emergency Hospital, Bucharest, Romania; Bucharest University of Economic Studies, Bucharest, Romania., Cardellino MP; VA Boston Healthcare System, Boston, MA, USA., Christensen KD; Harvard Medical School, Boston, MA, USA; Department of Population Medicine, Harvard Pilgrim Health Care Institute, Boston, MA, USA., Gala M; Harvard Medical School, Boston, MA, USA; Division of Gastroenterology and Clinical and Translational Epidemiology Unit, Massachusetts General Hospital, Boston, MA, USA., Green RC; Harvard Medical School, Boston, MA, USA; Broad Institute of Massachusetts Institute of Technology and Harvard University, Cambridge, MA, USA; Ariadne Labs, Boston, MA, USA; Department of Medicine (Genetics), Mass General Brigham, Boston, MA, USA., Harris E; VA Boston Healthcare System, Boston, MA, USA., Jones NE; VA Boston Healthcare System, Boston, MA, USA; Harvard Medical School, Boston, MA, USA., Kerman BJ; Division of General Internal Medicine and Primary Care, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA., Kraft P; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA., Kulkarni P; VA Boston Healthcare System, Boston, MA, USA., Lewis ACF; Department of Medicine (Genetics), Mass General Brigham, Boston, MA, USA; Edmond and Lily Safra Center for Ethics, Harvard University, Boston, MA, USA., Lubitz SA; Demoulas Center for Cardiac Arrhythmias, Massachusetts General Hospital, Boston, MA, USA; Novartis Institutes for BioMedical Research, Novartis, Basel, Basel-Stadt, Switzerland., Natarajan P; Harvard Medical School, Boston, MA, USA; Broad Institute of Massachusetts Institute of Technology and Harvard University, Cambridge, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA., Antwi AA; VA Boston Healthcare System, Boston, MA, USA.

المصدر: American journal of human genetics [Am J Hum Genet] 2023 Nov 02; Vol. 110 (11), pp. 1841-1852.

نوع المنشور: Journal Article; Pragmatic Clinical Trial; Randomized Controlled Trial; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Diabetes Mellitus, Type 2*/genetics , Prostatic Neoplasms*/genetics, Adult ; Humans ; Male ; Genetic Predisposition to Disease ; Primary Health Care ; Randomized Controlled Trials as Topic ; Risk Assessment ; Risk Factors

المؤلفون: Koyama S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, 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., Wang Y; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Paruchuri K; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, 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., Uddin MM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cardiovascular Research Center and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Cho SMJ; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cardiovascular Research Center and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Integrative Research Center for Cerebrovascular and Cardiovascular Diseases, Yonsei University College of Medicine, Seoul, Republic of Korea., Urbut SM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cardiovascular Research Center and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Haidermota S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cardiovascular Research Center and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Hornsby WE; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cardiovascular Research Center and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Green RC; Department of Medicine, Harvard Medical School, Boston, MA, USA.; Department of Medicine (Genetics), MassGeneralBrigham, Boston, MA, USA.; Broad Institute and Ariadne Labs, Boston, MA, USA., Daly MJ; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Institute for Molecular Medicine Finland (FIMM), Finland.; University of Helsinki, Helsinki, Finland., Neale BM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Ellinor PT; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, 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., Smoller JW; Department of Medicine, Harvard Medical School, Boston, MA, USA.; Psychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Center for Precision Psychiatry, Department of Psychiatry, Massachusetts General Hospital, Boston, MA, USA., Lebo MS; Department of Medicine, Harvard Medical School, Boston, MA, USA.; Mass General Brigham Personalized Medicine, Cambridge, MA, USA.; Department of Pathology, Brigham and Women's Hospital, Boston, MA, USA., Karlson EW; Department of Medicine, Harvard Medical School, Boston, MA, USA.; Mass General Brigham Personalized Medicine, Cambridge, MA, USA.; Division of Rheumatology, Inflammation and Immunity, Department of Medicine, Brigham and Women's Hospital., Boston, MA, USA., Martin AR; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Natarajan P; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, 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.

المصدر: MedRxiv : the preprint server for health sciences [medRxiv] 2023 Oct 25. Date of Electronic Publication: 2023 Oct 25.

نوع المنشور: Preprint

بيانات الدورية: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

المؤلفون: Green RC; Department of Medicine, Mass General Brigham, Boston, MA 02115, USA; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Ariadne Labs, Boston, MA 02215, USA; Harvard Medical School, Boston, MA 02215, USA. Electronic address: rcgreen@bwh.harvard.edu., Shah N; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Dartmouth Health Children's, Lebanon, NH 03756, USA., Genetti CA; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA., Yu T; Harvard Medical School, Boston, MA 02215, USA; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA., Zettler B; Department of Medicine, Mass General Brigham, Boston, MA 02115, USA; Ariadne Labs, Boston, MA 02215, USA., Uveges MK; William F. Connell School of Nursing, Boston College, Chestnut Hill, MA 02467, USA., Ceyhan-Birsoy O; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA., Lebo MS; Department of Medicine, Mass General Brigham, Boston, MA 02115, USA; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Harvard Medical School, Boston, MA 02215, USA; Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115, USA., Pereira S; Center for Medical Ethics and Health Policy, Baylor College of Medicine; Houston, TX, USA., Agrawal PB; Harvard Medical School, Boston, MA 02215, USA; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine and Holtz Children's Hospital, Jackson Health System, Miami, FL, USA., Parad RB; Harvard Medical School, Boston, MA 02215, USA; Department of Pediatric Newborn Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA., McGuire AL; Center for Medical Ethics and Health Policy, Baylor College of Medicine; Houston, TX, USA., Christensen KD; Harvard Medical School, Boston, MA 02215, USA; Department of Population Medicine, Harvard Pilgrim Health Care Institute, Boston, MA 02215, USA., Schwartz TS; Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA., Rehm HL; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Harvard Medical School, Boston, MA 02215, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA., Holm IA; Harvard Medical School, Boston, MA 02215, USA; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA., Beggs AH; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Harvard Medical School, Boston, MA 02215, USA; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.

مؤلفون مشاركون: BabySeq Project Team

المصدر: American journal of human genetics [Am J Hum Genet] 2023 Jul 06; Vol. 110 (7), pp. 1034-1045. Date of Electronic Publication: 2023 Jun 05.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Testing* , Genome, Human*, Humans ; Infant, Newborn ; Neonatal Screening ; Genomics ; Exome Sequencing

المؤلفون: Zhang Y; Division of General Medicine, Columbia University, New York, NY (Y.Z., B.K.B., P.P.B., E.C.O., A.E.M.)., Dron JS; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA (J.S.D., A.V.K., P.N.).; Center for Genomic Medicine (J.S.D., A.V.K.), Massachusetts General Hospital, Boston., Bellows BK; Division of General Medicine, Columbia University, New York, NY (Y.Z., B.K.B., P.P.B., E.C.O., A.E.M.)., Khera AV; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA (J.S.D., A.V.K., P.N.).; Center for Genomic Medicine (J.S.D., A.V.K.), Massachusetts General Hospital, Boston.; Departments of Medicine (A.V.K., P.N., D.S.K.), Harvard Medical School, Boston, MA., Liu J; Department of Population Health Science and Policy, Icahn School of Medicine, Mount Sinai, New York, NY (J.L.)., Balte PP; Division of General Medicine, Columbia University, New York, NY (Y.Z., B.K.B., P.P.B., E.C.O., A.E.M.)., Oelsner EC; Division of General Medicine, Columbia University, New York, NY (Y.Z., B.K.B., P.P.B., E.C.O., A.E.M.)., Amr SS; Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA (S.S.A., M.S.L.).; Laboratory for Molecular Medicine, Personalized Medicine, Mass General Brigham, Cambridge, MA (S.S.A., M.S.L., A.N.)., Lebo MS; Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA (S.S.A., M.S.L.).; Laboratory for Molecular Medicine, Personalized Medicine, Mass General Brigham, Cambridge, MA (S.S.A., M.S.L., A.N.)., Nagy A; Laboratory for Molecular Medicine, Personalized Medicine, Mass General Brigham, Cambridge, MA (S.S.A., M.S.L., A.N.)., Peloso GM; Department of Biostatistics, Boston University School of Public Health, MA (G.M.P.)., Natarajan P; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA (J.S.D., A.V.K., P.N.).; Center for Genomic Medicine (J.S.D., A.V.K.), Massachusetts General Hospital, Boston.; Department of Medicine (P.N.), Massachusetts General Hospital, Boston.; Departments of Medicine (A.V.K., P.N., D.S.K.), Harvard Medical School, Boston, MA., Rotter JI; Institute for Translational Genomics and Population Sciences, Department of Pediatrics, Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA (J.I.R., X.G.)., Willer C; Departments of Internal Medicine, Human Genetics, and Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor (C.W.)., Boerwinkle E; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health (E.B.), University of Texas Health Science Center at Houston., Ballantyne CM; Department of Medicine, Baylor College of Medicine, Houston, TX (C.M.B.)., Lutsey PL; Division of Epidemiology & Community Health, School of Public Health, University of Minnesota, Minneapolis (P.L.L.)., Fornage M; Brown Foundation Institute of Molecular Medicine (M.F.), University of Texas Health Science Center at Houston., Lloyd-Jones DM; Northwestern University, Chicago, IL (D.M.L.-J., L.H.)., Hou L; Northwestern University, Chicago, IL (D.M.L.-J., L.H.)., Psaty BM; Cardiovascular Health Research Unit, Department of Medicine (B.M.P., J.C.B., J.S.F.), University of Washington, Seattle.; Epidemiology (B.M.P., J.S.F.), University of Washington, Seattle.; Health Systems and Population Health (B.M.P.), University of Washington, Seattle., Bis JC; Cardiovascular Health Research Unit, Department of Medicine (B.M.P., J.C.B., J.S.F.), University of Washington, Seattle., Floyd JS; Cardiovascular Health Research Unit, Department of Medicine (B.M.P., J.C.B., J.S.F.), University of Washington, Seattle.; Epidemiology (B.M.P., J.S.F.), University of Washington, Seattle., Vasan RS; The Framingham Heart Study, MA (R.S.V.).; Sections of Preventive Medicine and Epidemiology and Cardiology, Department of Medicine, and Department of Epidemiology, Boston University Schools of Medicine and Public Health, and Center for Computing and Data Sciences, Boston University, MA (R.S.V.)., Heard-Costa NL; Department of Neurology, Boston University Chobanian & Avedisian School of Medicine, MA (N.L.H.-C.)., Carson AP; Department of Medicine, University of Mississippi Medical Center, Jackson (A.P.C., M.E.H.)., Hall ME; Department of Medicine, University of Mississippi Medical Center, Jackson (A.P.C., M.E.H.)., Rich SS; Center for Public Health Genomics, University of Virginia, Charlottesville (S.S.R.)., Guo X; Institute for Translational Genomics and Population Sciences, Department of Pediatrics, Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA (J.I.R., X.G.)., Kazi DS; Departments of Medicine (A.V.K., P.N., D.S.K.), Harvard Medical School, Boston, MA.; Richard A. and Susan F. Smith Center for Outcomes Research, Beth Israel Deaconess Medical Center, Boston, MA (D.S.K.)., de Ferranti SD; Pediatrics (S.D.d.F.), Harvard Medical School, Boston, MA.; Department of Cardiology, Boston Children's Hospital, MA (S.D.d.F.)., Moran AE; Division of General Medicine, Columbia University, New York, NY (Y.Z., B.K.B., P.P.B., E.C.O., A.E.M.).

المصدر: Circulation [Circulation] 2023 May 16; Vol. 147 (20), pp. 1556-1559. Date of Electronic Publication: 2023 May 15.

نوع المنشور: Letter; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0147763 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1524-4539 (Electronic) Linking ISSN: 00097322 NLM ISO Abbreviation: Circulation Subsets: MEDLINE

مواضيع طبية MeSH: Hypercholesterolemia*/epidemiology , Hypercholesterolemia*/genetics , Hyperlipoproteinemia Type II*/complications , Hyperlipoproteinemia Type II*/diagnosis , Hyperlipoproteinemia Type II*/epidemiology , Coronary Disease*/epidemiology , Coronary Disease*/genetics, Humans ; Genotype

المؤلفون: Reddi HV; Department of Pathology & Laboratory Medicine, Medical College of Wisconsin, Milwaukee, WI., Wand H; Division of Cardiovascular Medicine, Department of Medicine, Stanford Medicine, Stanford, CA., Funke B; Sema4, BioCT, Stamford, CT., Zimmermann MT; Bioinformatics Research and Development Laboratory, Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI., Lebo MS; Laboratory for Molecular Medicine, Mass General Brigham, Cambridge, MA., Qian E; Department of Genetics, Yale University, New Haven, CT., Shirts BH; Department of Laboratory Medicine & Pathology, UW Medicine, University of Washington, Seattle, WA., Zou YS; Department of Genomic Medicine and Pathology, Johns Hopkins University School of Medicine, Baltimore, MD., Zhang BM; Department of Pathology, Stanford University School of Medicine, Stanford, CA., Rose NC; Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, University of Utah Health, Salt Lake City, UT., Abu-El-Haija A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Harvard Medical School, Boston, MA.

مؤلفون مشاركون: ACMG Laboratory Quality Assurance Committee. Electronic address: documents@acmg.net; American College of Medical Genetics and Genomics, Bethesda, MD.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 May; Vol. 25 (5), pp. 100804. Date of Electronic Publication: 2023 Mar 27.

نوع المنشور: Practice Guideline; Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Genetics, Medical*, Humans ; United States ; Genomics ; Genetic Testing ; Laboratories