المؤلفون: Joachimiak MP; Biosystems Data Science Department, Environmental Genomics and Systems Biology Division, Lawrence Berkeley National Laboratory, 1 Cyclotron Road, Berkeley, CA 94720, USA., Caufield JH; Biosystems Data Science Department, Environmental Genomics and Systems Biology Division, Lawrence Berkeley National Laboratory, 1 Cyclotron Road, Berkeley, CA 94720, USA., Harris NL; Biosystems Data Science Department, Environmental Genomics and Systems Biology Division, Lawrence Berkeley National Laboratory, 1 Cyclotron Road, Berkeley, CA 94720, USA., Kim H; Robert Bosch LLC, Sunnyvale, CA 94085, USA., Mungall CJ; Biosystems Data Science Department, Environmental Genomics and Systems Biology Division, Lawrence Berkeley National Laboratory, 1 Cyclotron Road, Berkeley, CA 94720, USA.

المصدر: ArXiv [ArXiv] 2024 Jul 04. Date of Electronic Publication: 2024 Jul 04.

نوع المنشور: Journal Article; Preprint

بيانات الدورية: Country of Publication: United States NLM ID: 101759493 Publication Model: Electronic Cited Medium: Internet ISSN: 2331-8422 (Electronic) Linking ISSN: 23318422 NLM ISO Abbreviation: ArXiv Subsets: PubMed not MEDLINE

المؤلفون: Cappelletti L; AnacletoLab, Dipartimento di Informatica, Università degli Studi di Milano, Milano 20133, Italy., Rekerle L; The Jackson Laboratory for Genomic Medicine, CT 06032, United States., Fontana T; AnacletoLab, Dipartimento di Informatica, Università degli Studi di Milano, Milano 20133, Italy., Hansen P; The Jackson Laboratory for Genomic Medicine, CT 06032, United States., Casiraghi E; AnacletoLab, Dipartimento di Informatica, Università degli Studi di Milano, Milano 20133, Italy.; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94710, United States., Ravanmehr V; The Jackson Laboratory for Genomic Medicine, CT 06032, United States., Mungall CJ; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94710, United States., Yang JJ; Department of Internal Medicine and UNM Comprehensive Cancer Center, UNM School of Medicine, Albuquerque, NM 87102, United States., Spranger L; Institute of Bioinformatics, Freie Universität Berlin, Berlin, 14195, Germany., Karlebach G; The Jackson Laboratory for Genomic Medicine, CT 06032, United States., Caufield JH; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94710, United States., Carmody L; The Jackson Laboratory for Genomic Medicine, CT 06032, United States., Coleman B; The Jackson Laboratory for Genomic Medicine, CT 06032, United States.; Institute for Systems Genomics, University of Connecticut, Farmington, CT 06032, United States., Oprea TI; Department of Internal Medicine and UNM Comprehensive Cancer Center, UNM School of Medicine, Albuquerque, NM 87102, United States., Reese J; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94710, United States., Valentini G; AnacletoLab, Dipartimento di Informatica, Università degli Studi di Milano, Milano 20133, Italy.; ELLIS-European Laboratory for Learning and Intelligent Systems., Robinson PN; The Jackson Laboratory for Genomic Medicine, CT 06032, United States.; Institute for Systems Genomics, University of Connecticut, Farmington, CT 06032, United States.; ELLIS-European Laboratory for Learning and Intelligent Systems.; Berlin Institute of Health, Charité - Universitätsmedizin Berlin, Berlin, 10117, Germany.

المصدر: Bioinformatics advances [Bioinform Adv] 2024 Mar 04; Vol. 4 (1), pp. vbae036. Date of Electronic Publication: 2024 Mar 04 (Print Publication: 2024).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 9918282081306676 Publication Model: eCollection Cited Medium: Internet ISSN: 2635-0041 (Electronic) Linking ISSN: 26350041 NLM ISO Abbreviation: Bioinform Adv Subsets: PubMed not MEDLINE

المؤلفون: Caufield JH; Biosystems Data Science, Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, United States., Hegde H; Biosystems Data Science, Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, United States., Emonet V; Institute of Data Science, Faculty of Science and Engineering, Maastricht University, 6200 MD Maastricht, The Netherlands., Harris NL; Biosystems Data Science, Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, United States., Joachimiak MP; Biosystems Data Science, Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, United States., Matentzoglu N; Semanticly, Athens, Greece., Kim H; Robert Bosch LLC, Sunnyvale, CA 94085, United States., Moxon S; Biosystems Data Science, Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, United States., Reese JT; Biosystems Data Science, Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, United States., Haendel MA; Department of Biomedical Informatics, University of Colorado, Anschutz Medical Campus, Aurora, CO 80217, United States., Robinson PN; Berlin Institute of Health at Charité, 10178 Berlin, Germany., Mungall CJ; Biosystems Data Science, Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, United States.

المصدر: Bioinformatics (Oxford, England) [Bioinformatics] 2024 Mar 04; Vol. 40 (3).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 9808944 Publication Model: Print Cited Medium: Internet ISSN: 1367-4811 (Electronic) Linking ISSN: 13674803 NLM ISO Abbreviation: Bioinformatics Subsets: MEDLINE

مواضيع طبية MeSH: Semantics* , Knowledge Bases*, Databases, Factual

المؤلفون: Reese JT; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, 94720, USA., Danis D; The Jackson Laboratory for Genomic Medicine, Farmington CT, 06032, USA., Caufield JH; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, 94720, USA., Groza T; Rare Care Centre, Perth Children's Hospital, Perth, WA 6009, Australia.; Telethon Kids Institute, Perth, WA 6009, Australia., Casiraghi E; AnacletoLab, Dipartimento di Informatica, Università degli Studi di Milano, Milano, Italy., Valentini G; AnacletoLab, Dipartimento di Informatica, Università degli Studi di Milano, Milano, Italy.; ELLIS-European Laboratory for Learning and Intelligent Systems., Mungall CJ; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, 94720, USA., Robinson PN; The Jackson Laboratory for Genomic Medicine, Farmington CT, 06032, USA.; Institute for Systems Genomics, University of Connecticut, Farmington, CT 06032, USA.

المصدر: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Feb 26. Date of Electronic Publication: 2024 Feb 26.

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: Putman TE; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Schaper K; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Matentzoglu N; Independent Consultant, Semanticly, Athens, Greece., Rubinetti VP; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Alquaddoomi FS; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Cox C; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Caufield JH; Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA., Elsarboukh G; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Gehrke S; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Hegde H; Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA., Reese JT; Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA., Braun I; Data Collaboration Center, Critical Path Institute, Tucson, AZ 85718, USA., Bruskiewich RM; STAR Informatics, Delphinai Corporation, Sooke, BC V9Z 0M3, Canada., Cappelletti L; Biology, University of Fribourg, Fribourg, Switzerland., Carbon S; Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA., Caron AR; European Bioinformatics Institute (EMBL-EBI), Hinxton CB10 1SD, UK., Chan LE; College of Public Health and Human Sciences, Oregon State University, Corvallis, OR 97331, USA., Chute CG; Schools of Medicine, Public Health, and Nursing, Johns Hopkins University, Baltimore, MD 21205, USA., Cortes KG; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., De Souza V; European Bioinformatics Institute (EMBL-EBI), Hinxton CB10 1SD, UK., Fontana T; Dipartimento di Informatica, Università degli Studi di Milano Statale, Milano, Italy., Harris NL; Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA., Hartley EL; Data Collaboration Center, Critical Path Institute, Tucson, AZ 85718, USA., Hurwitz E; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Jacobsen JOB; William Harvey Research Institute, Queen Mary University of London, London EC1M 6BQ, UK., Krishnamurthy M; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Laraway BJ; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., McLaughlin JA; European Bioinformatics Institute (EMBL-EBI), Hinxton CB10 1SD, UK., McMurry JA; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Moxon SAT; Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA., Mullen KR; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., O'Neil ST; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Shefchek KA; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Stefancsik R; European Bioinformatics Institute (EMBL-EBI), Hinxton CB10 1SD, UK., Toro S; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Vasilevsky NA; Data Collaboration Center, Critical Path Institute, Tucson, AZ 85718, USA., Walls RL; Data Collaboration Center, Critical Path Institute, Tucson, AZ 85718, USA., Whetzel PL; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Osumi-Sutherland D; European Bioinformatics Institute (EMBL-EBI), Hinxton CB10 1SD, UK., Smedley D; William Harvey Research Institute, Queen Mary University of London, London EC1M 6BQ, UK., Robinson PN; The Jackson Laboratory for Genomic Medicine, Farmington, CT 6032, USA., Mungall CJ; Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA., Haendel MA; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Munoz-Torres MC; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.

المصدر: Nucleic acids research [Nucleic Acids Res] 2024 Jan 05; Vol. 52 (D1), pp. D938-D949.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium: Internet ISSN: 1362-4962 (Electronic) Linking ISSN: 03051048 NLM ISO Abbreviation: Nucleic Acids Res Subsets: MEDLINE

مواضيع طبية MeSH: Phenotype* , Databases, Factual*/standards , Genes*/genetics , Disease*/genetics, Humans ; Internet ; Software

المؤلفون: Gargano MA; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Matentzoglu N; Semanticly, Athens, Greece., Coleman B; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Addo-Lartey EB; Rare Disease Ghana Initiative, Accra, Ghana., Anagnostopoulos AV; The Jackson Laboratory, Bar Harbor, ME, USA., Anderton J; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, USA., Avillach P; Harvard Medical School, Boston, MA, USA., Bagley AM; Shriners Children's Northern California, Sacramento, CA, USA., Bakštein E; National Institute of Mental Health, Klecany, Czech Republic., Balhoff JP; Renaissance Computing Institute, University of North Carolina, Chapel Hill, NC 27517, USA., Baynam G; Rare Care Centre, Perth Children's Hospital, Perth, Australia., Bello SM; The Jackson Laboratory, Bar Harbor, ME, USA., Berk M; Deakin University, IMPACT - the Institute for Mental and Physical Health and Clinical Translation, School of Medicine, Barwon Health, Geelong, Australia., Bertram H; Department of Psychiatry, University of Michigan, Ann Arbor, MI, USA., Bishop S; Department of Psychiatry and Behavioral Sciences, UCSF Weil Institute for Neuroscience, San Francisco, CA, USA., Blau H; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Bodenstein DF; Department of Pharmacology and Toxicology, University of Toronto, Toronto, ON, Canada., Botas P; Nostos Genomics GmbH, Berlin, Germany., Boztug K; St. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria., Čady J; Institute of Health Information and Statistics of the Czech Republic, Prague, Czech Republic., Callahan TJ; Department of Biomedical Informatics, Columbia University Irving Medical Center, NY, NY, USA., Cameron R; Simon Fraser University, Burnaby, BC, Canada., Carbon SJ; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA., Castellanos F; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Caufield JH; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA., Chan LE; College of Public Health and Human Sciences, Oregon State University, Corvallis, OR 97331, USA., Chute CG; Schools of Medicine, Public Health, and Nursing, Johns Hopkins University, Baltimore, MD 21287, USA., Cruz-Rojo J; UDISGEN (Dysmorphology and Genetics Unit), 12 de Octubre Hospital, Madrid, Spain., Dahan-Oliel N; Department of Clinical Research, Shriners Hospitals for Children, Montreal, Quebec, Canada., Davids JR; Shriners Children's Northern California, Sacramento, CA, USA., de Dieuleveult M; Département I&D, AP-HP, Banque Nationale de Données Maladies Rares, Paris, France., de Souza V; European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Hinxton CB10 1SD, UK., de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands., de Vries E; Tranzo, TSB, Tilburg University, Netherlands., DePaulo JR; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA., Derfalvi B; Department of Pediatrics, Dalhousie University, Halifax, NS, Canada., Dhombres F; Fetal Medicine Department, Armand Trousseau Hospital, Sorbonne University, GRC26, INSERM, Limics, Paris, France., Diaz-Byrd C; Department of Psychiatry, University of Michigan, Ann Arbor, MI, USA., Dingemans AJM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands., Donadille B; St Antoine Hospital, Reference Center for Rare Growth Endocrine Disorders, Sorbonne University, AP-HP, INSERM, US14 - Orphanet, Plateforme Maladies Rares, Paris, France., Duyzend M; Massachusetts General Hospital, Boston, MA, USA., Elfeky R; Department of Immunology, GOS Hospital for Children NHS Foundation Trust, University College London, London, UK., Essaid S; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Fabrizzi C; INSERM, US14 - Orphanet, Plateforme Maladies Rares, Paris, France., Fico G; Bipolar and Depressive Disorders Unit, Institute of Neuroscience, Hospital Clinic, University of Barcelona, IDIBAPS, CIBERSAM, Barcelona, Catalonia, Spain., Firth HV; Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, UK., Freudenberg-Hua Y; Department of Psychiatry, Feinstein Institutes for Medical Research, Northwell Health, Manhasset, NY, USA., Fullerton JM; Neuroscience Research Australia, Sydney, NSW, Australia., Gabriel DL; School of Medicine, Johns Hopkins University, Baltimore, MD 21287, USA., Gilmour K; Immunology, NIHR Great Ormond Street Hospital BRC, London, UK., Giordano J; Department of Obstetrics and Gynecology, Columbia University Irving Medical Center, New York, NY, USA., Goes FS; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA., Moses RG; National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA., Green I; SNOMED International, London W2 6BD, UK., Griese M; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, German center for Lung research (DZL), Munich, Germany., Groza T; Rare Care Centre, Perth Children's Hospital, Perth, Australia., Gu W; Chinese HPO Consortium, Beijing, China., Guthrie J; Department of Structural and Computational Biology, University of Vienna; Max Perutz Labs, Vienna, Austria., Gyori B; Khoury College of Computer Sciences, Northeastern University, Boston, MA, USA., Hamosh A; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA., Hanauer M; INSERM, US14 - Orphanet, Plateforme Maladies Rares, Paris, France., Hanušová K; Institute of Health Information and Statistics of the Czech Republic, Prague, Czech Republic., He YO; University of Michigan Medical School, Ann Arbor, MI, USA., Hegde H; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA., Helbig I; Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Holasová K; Institute of Health Information and Statistics of the Czech Republic, Prague, Czech Republic., Hoyt CT; Khoury College of Computer Sciences, Northeastern University, Boston, MA, USA., Huang S; Chinese HPO Consortium, Beijing, China., Hurwitz E; University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Jacobsen JOB; William Harvey Research Institute, Queen Mary University of London, London, UK., Jiang X; Chinese HPO Consortium, Beijing, China., Joseph L; Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, Bethesda, MD, USA., Keramatian K; Department of Psychiatry, University of British Columbia, Vancouver, BC, Canada., King B; Department of Psychiatry and Behavioral Sciences, UCSF Weil Institute for Neuroscience, San Francisco, CA, USA., Knoflach K; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, German center for Lung research (DZL), Munich, Germany., Koolen DA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands., Kraus ML; University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Kroll C; William Harvey Research Institute, Queen Mary University of London, London, UK., Kusters M; Immunology, NIHR Great Ormond Street Hospital BRC, London, UK., Ladewig MS; Department of Ophthalmology, University Clinic Marburg - Campus Fulda, Fulda, Germany., Lagorce D; INSERM, US14 - Orphanet, Plateforme Maladies Rares, Paris, France., Lai MC; Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada., Lapunzina P; Institute of Medical and Molecular Genetics, Hospital Univ. La Paz, Madrid, Spain., Laraway B; University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Lewis-Smith D; Translational and Clinical Research Institute, Henry Wellcome Building, Framlington Place, Newcastle University, Newcastle-Upon-Tyne NE14LP, UK., Li X; Chinese HPO Consortium, Beijing, China., Lucano C; INSERM, US14 - Orphanet, Plateforme Maladies Rares, Paris, France., Majd M; Department of Psychiatry, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA., Marazita ML; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, USA., Martinez-Glez V; Center for Genomic Medicine, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí (I3PT-CERCA), Sabadell, Spain., McHenry TH; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, USA., McInnis MG; Department of Psychiatry, University of Michigan, Ann Arbor, MI, USA., McMurry JA; University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Mihulová M; Department of Biology and Medical Genetics, 2nd Medical Faculty of Charles University and University Hospital Motol, Prague, Czech Republic., Millett CE; Feinstein Institutes for Medical Research, Northwell Health, Manhasset, NY, USA., Mitchell PB; Discipline of Psychiatry & Mental Health, School of Clinical Medicine, Faculty of Medicine & Health, University of New South Wales, Sydney, NSW, Australia., Moslerová V; Department of Biology and Medical Genetics, 2nd Medical Faculty of Charles University and University Hospital Motol, Prague, Czech Republic., Narutomi K; Okinawa Prefectural Nanbu Medical Center & Children's Medical Center., Nematollahi S; School of Physical and Occupational Therapy, McGill University, Montreal, Quebec, Canada., Nevado J; Institute of Medical and Molecular Genetics, Hospital Univ. La Paz, Madrid, Spain., Nierenberg AA; Dauten Family Center for Bipolar Treatment Innovation, Massachusetts General Hospital, Boston, MA, USA., Čajbiková NN; Department of Biology and Medical Genetics, 2nd Medical Faculty of Charles University and University Hospital Motol, Prague, Czech Republic., Nurnberger JI Jr; Stark Neurosciences Research Institute, Departments of Psychiatry and Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA., Ogishima S; INGEM/ToMMo, Tohoku University, Sendai, Japan., Olson D; Data Collaboration Center, Data Science, Critical Path Institute, Tucson, AZ, USA., Ortiz A; Department of Psychiatry, University of Toronto, Toronto, ON, Canada., Pachajoa H; Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras (CIACER), Universidad Icesi, Cali, Colombia., Perez de Nanclares G; Molecular (epi) genetics lab, Bioaraba Health Research Institute, Araba University Hospital, Vitoria-Gasteiz, Spain., Peters A; Department of Psychiatry, Massachusetts General Hospital, Boston, MA, USA., Putman T; University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Rapp CK; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, German center for Lung research (DZL), Munich, Germany., Rath A; INSERM, US14 - Orphanet, Plateforme Maladies Rares, Paris, France., Reese J; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA., Rekerle L; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Roberts AM; National Heart & Lung Institute & MRC London Institute of Medical Sciences, Imperial College London, London W12 0HS, UK., Roy S; SNOMED International, London W2 6BD, UK., Sanders SJ; Department of Paediatrics, Institute of Developmental and Regenerative Medicine, University of Oxford, Oxford, UK., Schuetz C; Universitätsklinikum Carl Gustav Carus, Medizinische Fakultät, TU, Dresden, Germany., Schulte EC; Institute of Psychiatric Phenomics and Genomics (IPPG), LMU University Hospital, LMU Munich, Munich, Germany., Schulze TG; Department of Psychiatry and Behavioral Sciences, SUNY Upstate Medical University, Syracuse, NY, USA., Schwarz M; Department of Biology and Medical Genetics, 2nd Medical Faculty of Charles University and University Hospital Motol, Prague, Czech Republic., Scott K; Department of Psychiatry, Dalhousie University, Halifax, NS, Canada., Seelow D; Exploratory Diagnostic Sciences, Berliner Institut für Gesundheitsforschung - Charité, Berlin, Germany., Seitz B; Department of Ophthalmology, Saarland University Medical Center UKS, Homburg/Saar, Germany., Shen Y; Chinese HPO Consortium, Beijing, China., Similuk MN; National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA., Simon ES; Eisenberg Family Depression Center, University of Michigan, Ann Arbor, MI, USA., Singh B; Department of Psychiatry and Psychology, Mayo Clinic, Rochester, MN, USA., Smedley D; William Harvey Research Institute, Queen Mary University of London, London, UK., Smith CL; The Jackson Laboratory, Bar Harbor, ME, USA., Smolinsky JT; Human Genetics Institute of New Jersey, Rutgers University, Piscataway, NJ, USA., Sperry S; Department of Psychiatry, University of Michigan, Ann Arbor, MI, USA., Stafford E; The National Alliance on Mental Illness, Arlington, VA, USA., Stefancsik R; European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Hinxton CB10 1SD, UK., Steinhaus R; Exploratory Diagnostic Sciences, Berliner Institut für Gesundheitsforschung - Charité, Berlin, Germany., Strawbridge R; Department of Psychological Medicine, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK., Sundaramurthi JC; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Talapova P; Institute for Research and Health Policy Studies, Tufts Medicine, Boston, MA 2111, USA., Tenorio Castano JA; Institute of Medical and Molecular Genetics, Hospital Univ. La Paz, Madrid, Spain., Tesner P; Department of Biology and Medical Genetics, 2nd Medical Faculty of Charles University and University Hospital Motol, Prague, Czech Republic., Thomas RH; Translational and Clinical Research Institute, Henry Wellcome Building, Framlington Place, Newcastle University, Newcastle-Upon-Tyne NE14LP, UK., Thurm A; Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, Bethesda, MD, USA., Turnovec M; Department of Biology and Medical Genetics, 2nd Medical Faculty of Charles University and University Hospital Motol, Prague, Czech Republic., van Gijn ME; Department of Genetics, University Medical Center Groningen, Groningen, Netherlands., Vasilevsky NA; Critical Path Institute, Tucson, AZ, USA., Vlčková M; Department of Biology and Medical Genetics, 2nd Medical Faculty of Charles University and University Hospital Motol, Prague, Czech Republic., Walden A; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Wang K; Chinese HPO Consortium, Beijing, China., Wapner R; Department of Obstetrics and Gynecology, Columbia University Irving Medical Center, New York, NY, USA., Ware JS; National Heart & Lung Institute & MRC London Institute of Medical Sciences, Imperial College London, London W12 0HS, UK., Wiafe AA; Rare Disease Ghana Initiative, Accra, Ghana., Wiafe SA; Rare Disease Ghana Initiative, Accra, Ghana., Wiggins LD; National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA, USA., Williams AE; Institute for Research and Health Policy Studies, Tufts Medicine, Boston, MA 2111, USA., Wu C; Chinese HPO Consortium, Beijing, China., Wyrwoll MJ; Centre for Regenerative Medicine, Institute for Regeneration and Repair, Institute for Stem Cell Research, University of Edinburgh, Edinburgh, UK., Xiong H; Chinese HPO Consortium, Beijing, China., Yalin N; Department of Psychological Medicine, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK., Yamamoto Y; Database Center for Life Science, Joint Support-Center for Data Science Research, Research Organization of Information and Systems, Japan., Yatham LN; Department of Psychiatry, University of British Columbia, Vancouver, BC, Canada., Yocum AK; Department of Psychiatry, University of Michigan, Ann Arbor, MI, USA., Young AH; Psychological Medicine, Institute of Psychiatry, Psychology and Neuroscience, King's College London & South London and Maudsley NHS Foundation Trust, Bethlem Royal Hospital, Monks Orchard Road, Beckenham, Kent, London SE5 8AF, UK., Yüksel Z; Department of Human Genetics, Bioscientia Healthcare GmbH, Ingelheim, Germany., Zandi PP; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA., Zankl A; Faculty of Medicine and Health, The University of Sydney, Camperdown, Australia., Zarante I; Institute of Human Genetics, Pontificia Universidad Javeriana, Bogotá, Colombia., Zvolský M; Institute of Health Information and Statistics of the Czech Republic, Prague, Czech Republic., Toro S; University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Carmody LC; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Harris NL; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA., Munoz-Torres MC; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Danis D; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., Mungall CJ; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA., Köhler S; Ada Health GmbH, Berlin, Germany., Haendel MA; University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Robinson PN; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.

المصدر: Nucleic acids research [Nucleic Acids Res] 2024 Jan 05; Vol. 52 (D1), pp. D1333-D1346.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium: Internet ISSN: 1362-4962 (Electronic) Linking ISSN: 03051048 NLM ISO Abbreviation: Nucleic Acids Res Subsets: MEDLINE

مواضيع طبية MeSH: Biological Ontologies*, Humans ; Phenotype ; Genomics ; Algorithms ; Rare Diseases

المؤلفون: Pelletier AR; Department of Physiology, UCLA School of Medicine; Scalable Analytics Institute (ScAi) at Department of Computer Science, UCLA School of Engineering; NIH BRIDGE2AI Center at UCLA & NHLBI Integrated Cardiovascular Data Science Training Program, UCLA; arpelletier@g.ucla.edu., Steinecke D; Department of Physiology, UCLA School of Medicine; NIH BRIDGE2AI Center at UCLA & NHLBI Integrated Cardiovascular Data Science Training Program, UCLA; Medical Informatics, University of California at Los Angeles (UCLA)., Sigdel D; Department of Physiology, UCLA School of Medicine., Adam I; Department of Physiology, UCLA School of Medicine., Caufield JH; Department of Physiology, UCLA School of Medicine., Guevara-Gonzalez V; Department of Physiology, UCLA School of Medicine., Ramirez J; Department of Physiology, UCLA School of Medicine., Verma A; Department of Physiology, UCLA School of Medicine., Bali K; Department of Physiology, UCLA School of Medicine., Downs K; Department of Physiology, UCLA School of Medicine., Wang W; Department of Physiology, UCLA School of Medicine; Scalable Analytics Institute (ScAi) at Department of Computer Science, UCLA School of Engineering; NIH BRIDGE2AI Center at UCLA & NHLBI Integrated Cardiovascular Data Science Training Program, UCLA., Bui A; NIH BRIDGE2AI Center at UCLA & NHLBI Integrated Cardiovascular Data Science Training Program, UCLA; Medical Informatics, University of California at Los Angeles (UCLA)., Ping P; Department of Physiology, UCLA School of Medicine; Scalable Analytics Institute (ScAi) at Department of Computer Science, UCLA School of Engineering; NIH BRIDGE2AI Center at UCLA & NHLBI Integrated Cardiovascular Data Science Training Program, UCLA; Medical Informatics, University of California at Los Angeles (UCLA); Department of Medicine (Cardiology), UCLA School of Medicine.

المصدر: Journal of visualized experiments : JoVE [J Vis Exp] 2023 Oct 13 (200). Date of Electronic Publication: 2023 Oct 13.

نوع المنشور: Journal Article; Video-Audio Media; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.

بيانات الدورية: Publisher: MYJoVE Corporation Country of Publication: United States NLM ID: 101313252 Publication Model: Electronic Cited Medium: Internet ISSN: 1940-087X (Electronic) Linking ISSN: 1940087X NLM ISO Abbreviation: J Vis Exp Subsets: MEDLINE

مواضيع طبية MeSH: Pattern Recognition, Automated* , Software*, Reproducibility of Results ; Data Mining/methods

المؤلفون: Caufield JH; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, United States., Putman T; Anschutz Medical Campus, University of Colorado, Aurora, CO 80045, United States., Schaper K; Anschutz Medical Campus, University of Colorado, Aurora, CO 80045, United States., Unni DR; SIB Swiss Institute of Bioinformatics, Basel 1015, Switzerland., Hegde H; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, United States., Callahan TJ; Department of Biomedical Informatics, Columbia University Irving Medical Center, New York, NY 10032, United States., Cappelletti L; Department of Computer Science, University of Milano, Milan 20126, Italy., Moxon SAT; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, United States., Ravanmehr V; Department of Lymphoma-Myeloma, MD Anderson Cancer Center, Houston, TX 77030, United States., Carbon S; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, United States., Chan LE; College of Public Health and Human Sciences, Oregon State University, Corvallis, OR 97331, United States., Cortes K; Anschutz Medical Campus, University of Colorado, Aurora, CO 80045, United States., Shefchek KA; Anschutz Medical Campus, University of Colorado, Aurora, CO 80045, United States., Elsarboukh G; Anschutz Medical Campus, University of Colorado, Aurora, CO 80045, United States., Balhoff J; Renaissance Computing Institute, University of North Carolina, Chapel Hill, NC 27517, United States., Fontana T; Dipartimento di Elettronica, Informazione e Bioingegneria, Politecnico di Milano, Milan 20133, Italy., Matentzoglu N; Semanticly, Athens, Greece., Bruskiewich RM; STAR Informatics, Delphinai Corporation, Sooke, BC V9Z 0M3, Canada., Thessen AE; Anschutz Medical Campus, University of Colorado, Aurora, CO 80045, United States., Harris NL; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, United States., Munoz-Torres MC; Anschutz Medical Campus, University of Colorado, Aurora, CO 80045, United States., Haendel MA; Anschutz Medical Campus, University of Colorado, Aurora, CO 80045, United States., Robinson PN; The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, United States., Joachimiak MP; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, United States., Mungall CJ; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, United States., Reese JT; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, United States.

المصدر: Bioinformatics (Oxford, England) [Bioinformatics] 2023 Jul 01; Vol. 39 (7).

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 9808944 Publication Model: Print Cited Medium: Internet ISSN: 1367-4811 (Electronic) Linking ISSN: 13674803 NLM ISO Abbreviation: Bioinformatics Subsets: MEDLINE

مواضيع طبية MeSH: COVID-19* , Biological Ontologies*, Humans ; Pattern Recognition, Automated ; Rare Diseases ; Machine Learning

المؤلفون: Reese JT; Environmental Genomics and Systems Biology Division, Lawrence Berkeley National Laboratory, Berkeley, CA, USA., Blau H; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT, USA., Casiraghi E; Environmental Genomics and Systems Biology Division, Lawrence Berkeley National Laboratory, Berkeley, CA, USA; AnacletoLab, Dipartimento di Informatica, Università Degli Studi di Milano, Milan, Italy., Bergquist T; Sage Bionetworks, Seattle, WA, USA., Loomba JJ; The Integrated Translational Health Research Institute of Virginia (iTHRIV), University of Virginia, Charlottesville, VA, USA., Callahan TJ; Department of Biomedical Informatics, Columbia University Irving Medical Center, New York, NY, USA., Laraway B; Departments of Biomedical Informatics and Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Antonescu C; University of Arizona - Banner Health, Phoenix, AZ, USA., Coleman B; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT, USA., Gargano M; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT, USA., Wilkins KJ; Biostatistics Program, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA., Cappelletti L; AnacletoLab, Dipartimento di Informatica, Università Degli Studi di Milano, Milan, Italy., Fontana T; AnacletoLab, Dipartimento di Informatica, Università Degli Studi di Milano, Milan, Italy., Ammar N; Health Science Center, University of Tennessee, Memphis, TN, USA., Antony B; Department of Computer Science, Virginia Tech, Blacksburg, VA, USA., Murali TM; Department of Computer Science, Virginia Tech, Blacksburg, VA, USA., Caufield JH; Environmental Genomics and Systems Biology Division, Lawrence Berkeley National Laboratory, Berkeley, CA, USA., Karlebach G; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT, USA., McMurry JA; Departments of Biomedical Informatics and Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Williams A; Tufts Medical Center Clinical and Translational Science Institute, Tufts Medical Center, Boston, MA, USA; Tufts University School of Medicine, Institute for Clinical Research and Health Policy Studies, Boston, MA, USA; Northeastern University, OHDSI Center at the Roux Institute, Boston, MA, USA., Moffitt R; Department of Biomedical Informatics and Stony Brook Cancer Center, Stony Brook University, Stony Brook, NY, USA., Banerjee J; Sage Bionetworks, Seattle, WA, USA., Solomonides AE; HealthSystem Research Institute, NorthShore University, Evanston, IL, USA., Davis H; Patient-Led Research Collaborative, NY, USA., Kostka K; Northeastern University, OHDSI Center at the Roux Institute, Boston, MA, USA., Valentini G; AnacletoLab, Dipartimento di Informatica, Università Degli Studi di Milano, Milan, Italy., Sahner D; Axle Informatics, Rockville, MD, USA., Chute CG; Schools of Medicine, Public Health and Nursing, Johns Hopkins University, Baltimore, MD, USA., Madlock-Brown C; Health Science Center, University of Tennessee, Memphis, TN, USA., Haendel MA; Departments of Biomedical Informatics and Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Robinson PN; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT, USA; Institute for Systems Genomics, University of Connecticut, Farmington, CT, USA. Electronic address: Peter.Robinson@jax.org.

مؤلفون مشاركون: N3C Consortium, RECOVER Consortium

المصدر: EBioMedicine [EBioMedicine] 2023 Jan; Vol. 87, pp. 104413. Date of Electronic Publication: 2022 Dec 21.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 101647039 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2352-3964 (Electronic) Linking ISSN: 23523964 NLM ISO Abbreviation: EBioMedicine Subsets: MEDLINE

مواضيع طبية MeSH: COVID-19* , Post-Acute COVID-19 Syndrome*, Humans ; Disease Progression ; SARS-CoV-2

المؤلفون: Unni DR; Genome Biology Unit, European Molecular Biology Laboratory, Heidelberg, Germany.; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, California, USA., Moxon SAT; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, California, USA., Bada M; Center for Health AI, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA., Brush M; Center for Health AI, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA., Bruskiewich R; Star Informatics, Sooke, British Columbia, Canada., Caufield JH; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, California, USA., Clemons PA; Chemical Biology and Therapeutics Science Program, Broad Institute, Cambridge, Massachusetts, USA., Dancik V; Chemical Biology and Therapeutics Science Program, Broad Institute, Cambridge, Massachusetts, USA., Dumontier M; Institute of Data Science, Maastricht University, Maastricht, The Netherlands., Fecho K; Renaissance Computing Institute, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Glusman G; Institute for Systems Biology, Seattle, Washington, USA., Hadlock JJ; Institute for Systems Biology, Seattle, Washington, USA., Harris NL; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, California, USA., Joshi A; Institute for Systems Biology, Seattle, Washington, USA., Putman T; Center for Health AI, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA., Qin G; Institute for Systems Biology, Seattle, Washington, USA., Ramsey SA; Department of Biomedical Sciences, Oregon State University, Corvallis, Oregon, USA., Shefchek KA; Center for Health AI, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA., Solbrig H; Johns Hopkins University, Baltimore, Maryland, USA., Soman K; Department of Neurology, University of California San Francisco, San Francisco, California, USA., Thessen AE; Center for Health AI, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA., Haendel MA; Center for Health AI, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA., Bizon C; Renaissance Computing Institute, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Mungall CJ; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, California, USA.

مؤلفون مشاركون: Biomedical Data Translator Consortium

المصدر: Clinical and translational science [Clin Transl Sci] 2022 Aug; Vol. 15 (8), pp. 1848-1855. Date of Electronic Publication: 2022 Jun 06.

نوع المنشور: Journal Article; Review; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: WileyBlackwell Pub Country of Publication: United States NLM ID: 101474067 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1752-8062 (Electronic) Linking ISSN: 17528054 NLM ISO Abbreviation: Clin Transl Sci Subsets: MEDLINE

مواضيع طبية MeSH: Pattern Recognition, Automated* , Translational Science, Biomedical*, Knowledge