المؤلفون: Dalton K, Preston Cg, Steven M. Harrison, Lawrence J. Babb, Bryan Wulf, Heidi L. Rehm, Selina S. Dwight, Jimmy Zhen, J. M. Cherry, Deborah I. Ritter, Kristy Lee, Erin Rooney Riggs, Madhavrao R, Cheng S, Jessica L. Mester, Ronak Y. Patel, Matthew Wright, Tong H, Jennifer L. Goldstein, Carlos Bustamante, Julianne M. O’Daniel, Xi Luo, Hannah Wand, Cheung G, Helio A. Costa, Zastrow Db, Jonathan S. Berg, Mandell Me, Sai Lakshmi Subramanian, Sharon E. Plon, Alice B. Popejoy, Arturo Lopez Pineda, Michael A. Iacocca, Marina T. DiStefano, Aleksandar Milosavljevic

المصدر: Genome Medicine
Genome Medicine, Vol 14, Iss 1, Pp 1-12 (2022)

مصطلحات موضوعية: Process (engineering), Computer science, Interface (Java), Genomics, QH426-470, Variant curation, Resource (project management), Genetics, Humans, Genetic Testing, Clinical genetics, Molecular Biology, Genetics (clinical), Genome, Human, Suite, Precision medicine, Genetic Variation, Pathogenicity, Data science, Identification (information), Workflow, Clinical Genome Resource Consortium, Medicine, Molecular Medicine, Software

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebcfcda7df773ca429b64266180178c9
https://pubmed.ncbi.nlm.nih.gov/35039090

المؤلفون: Wright MW; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, California, USA; email: wrightmw@stanford.edu, teri.klein@stanford.edu., Thaxton CL; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA; email: courtney_thaxton@med.unc.edu., Nelson T; Geisinger, Danville, Pennsylvania, USA; email: thnelson@geisinger.edu., DiStefano MT; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Savatt JM; Geisinger, Danville, Pennsylvania, USA; email: thnelson@geisinger.edu., Brush MH; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA., Cheung G; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, California, USA; email: wrightmw@stanford.edu, teri.klein@stanford.edu., Mandell ME; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, California, USA; email: wrightmw@stanford.edu, teri.klein@stanford.edu., Wulf B; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, California, USA; email: wrightmw@stanford.edu, teri.klein@stanford.edu., Ward TJ; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA; email: courtney_thaxton@med.unc.edu., Goehringer S; Geisinger, Danville, Pennsylvania, USA; email: thnelson@geisinger.edu., O'Neill T; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Weller P; Geisinger, Danville, Pennsylvania, USA; email: thnelson@geisinger.edu., Preston CG; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, California, USA; email: wrightmw@stanford.edu, teri.klein@stanford.edu., Keseler IM; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, California, USA; email: wrightmw@stanford.edu, teri.klein@stanford.edu., Goldstein JL; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA; email: courtney_thaxton@med.unc.edu., Strande NT; Geisinger, Danville, Pennsylvania, USA; email: thnelson@geisinger.edu., McGlaughon J; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA; email: courtney_thaxton@med.unc.edu., Azzariti DR; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Cordova I; Geisinger, Danville, Pennsylvania, USA; email: thnelson@geisinger.edu., Dziadzio H; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Babb L; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Riehle K; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Milosavljevic A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Martin CL; Geisinger, Danville, Pennsylvania, USA; email: thnelson@geisinger.edu., Rehm HL; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Plon SE; Department of Pediatrics, Division of Hematology-Oncology, Baylor College of Medicine, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Berg JS; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA; email: courtney_thaxton@med.unc.edu., Riggs ER; Geisinger, Danville, Pennsylvania, USA; email: thnelson@geisinger.edu., Klein TE; Departments of Medicine (Biomedical Informatics Research) and Genetics, Stanford University School of Medicine, Stanford, California, USA.; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, California, USA; email: wrightmw@stanford.edu, teri.klein@stanford.edu.

المصدر: Annual review of biomedical data science [Annu Rev Biomed Data Sci] 2024 Aug; Vol. 7 (1), pp. 31-50. Date of Electronic Publication: 2024 Jul 24.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Annual Reviews Country of Publication: United States NLM ID: 101714020 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2574-3414 (Electronic) Linking ISSN: 25743414 NLM ISO Abbreviation: Annu Rev Biomed Data Sci Subsets: MEDLINE

مواضيع طبية MeSH: Databases, Genetic*, Humans ; Genetic Diseases, Inborn/genetics ; Genetic Diseases, Inborn/diagnosis ; Genetic Diseases, Inborn/classification ; Precision Medicine/methods ; Genetic Predisposition to Disease

المؤلفون: Dalton KP; Department of Biomedical Data Science, Stanford University, Stanford, CA, USA., Rehm HL, Wright MW, Mandell ME, Krysiak K, Babb L, Riehle K, Nelson T, Wagner AH

المصدر: Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing [Pac Symp Biocomput] 2023; Vol. 28, pp. 531-535.

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

بيانات الدورية: Publisher: World Scientific Country of Publication: United States NLM ID: 9711271 Publication Model: Print Cited Medium: Internet ISSN: 2335-6936 (Electronic) Linking ISSN: 23356928 NLM ISO Abbreviation: Pac Symp Biocomput Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Variation* , Computational Biology*, Humans ; Databases, Genetic ; Genome, Human ; Genomics

المؤلفون: Preston CG; Department of Pathology, Stanford University School of Medicine, 300 Pasteur Drive, MSOB x313, Stanford, CA, 94305, USA., Wright MW; Department of Pathology, Stanford University School of Medicine, 300 Pasteur Drive, MSOB x313, Stanford, CA, 94305, USA., Madhavrao R; Department of Pathology, Stanford University School of Medicine, 300 Pasteur Drive, MSOB x313, Stanford, CA, 94305, USA., Harrison SM; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA., Goldstein JL; Department of Genetics, University of North Carolina, Chapel Hill, NC, 27599, USA., Luo X; Department of Pediatrics/Hematology-Oncology, Baylor College of Medicine, Houston, TX, 77030, USA., Wand H; Center for Inherited Cardiovascular Disease, Stanford Health Care, Stanford, CA, 94305, USA., Wulf B; Department of Pathology, Stanford University School of Medicine, 300 Pasteur Drive, MSOB x313, Stanford, CA, 94305, USA., Cheung G; Department of Pathology, Stanford University School of Medicine, 300 Pasteur Drive, MSOB x313, Stanford, CA, 94305, USA., Mandell ME; Department of Pathology, Stanford University School of Medicine, 300 Pasteur Drive, MSOB x313, Stanford, CA, 94305, USA., Tong H; Department of Pathology, Stanford University School of Medicine, 300 Pasteur Drive, MSOB x313, Stanford, CA, 94305, USA., Cheng S; Department of Pathology, Stanford University School of Medicine, 300 Pasteur Drive, MSOB x313, Stanford, CA, 94305, USA., Iacocca MA; Department of Pathology, Stanford University School of Medicine, 300 Pasteur Drive, MSOB x313, Stanford, CA, 94305, USA., Pineda AL; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA, 94305, USA., Popejoy AB; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA, 94305, USA., Dalton K; Department of Medicine, Stanford University School of Medicine, Stanford, CA, 94305, USA., Zhen J; Department of Medicine, Stanford University School of Medicine, Stanford, CA, 94305, USA., Dwight SS; Grace Science LLC, Menlo Park, CA, 94025, USA., Babb L; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA., DiStefano M; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA., O'Daniel JM; Department of Genetics, University of North Carolina, Chapel Hill, NC, 27599, USA., Lee K; Department of Genetics, University of North Carolina, Chapel Hill, NC, 27599, USA., Riggs ER; Autism & Developmental Medicine Institute, Geisinger Health System, Lewisburg, PA, 17837, USA., Zastrow DB; Sutter Health, Mountain View, CA, 94040, USA., Mester JL; GeneDx Inc., Gaithersburg, MD, 20877, USA., Ritter DI; Department of Pediatrics/Hematology-Oncology, Baylor College of Medicine, Houston, TX, 77030, USA., Patel RY; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Subramanian SL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Milosavljevic A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Berg JS; Department of Genetics, University of North Carolina, Chapel Hill, NC, 27599, USA., Rehm HL; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA., Plon SE; Department of Pediatrics/Hematology-Oncology, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Cherry JM; Department of Genetics, Stanford University School of Medicine, Stanford, CA, 94305, USA., Bustamante CD; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA, 94305, USA.; Department of Genetics, Stanford University School of Medicine, Stanford, CA, 94305, USA., Costa HA; Department of Pathology, Stanford University School of Medicine, 300 Pasteur Drive, MSOB x313, Stanford, CA, 94305, USA. hcosta@stanford.edu.; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA, 94305, USA. hcosta@stanford.edu.

مؤلفون مشاركون: Clinical Genome Resource (ClinGen)

المصدر: Genome medicine [Genome Med] 2022 Jan 18; Vol. 14 (1), pp. 6. Date of Electronic Publication: 2022 Jan 18.

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

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Variation* , Genome, Human*, Humans ; Genetic Testing ; Genomics