المؤلفون: Huaqin Pan, Vesselina Bakalov, Lisa Cox, Michelle L. Engle, Stephen W. Erickson, Michael Feolo, Yuelong Guo, Wayne Huggins, Stephen Hwang, Masato Kimura, Michelle Krzyzanowski, Josh Levy, Michael Phillips, Ying Qin, David Williams, Erin M. Ramos, Carol M. Hamilton

المصدر: Scientific Data, Vol 9, Iss 1, Pp 1-9 (2022)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2052-4463Test

الوصول الحر: https://doaj.org/article/cbbedd2d9e354f1ca624c678f6eb6fa2Test

المؤلفون: Teri A, Manolio, Jahnavi, Narula, Carol J, Bult, Rex L, Chisholm, Patricia A, Deverka, Geoffrey S, Ginsburg, Madison, Goldrich, Eric D, Green, Gail P, Jarvik, George A, Mensah, Erin M, Ramos, Mary V, Relling, Dan M, Roden, Robb, Rowley, Marc S, Williams

المصدر: Am J Hum Genet

مصطلحات موضوعية: Genomic Medicine, Genetics, Humans, Year in Review, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ed48ba28399582b7def635585299a0bTest
https://doi.org/10.1016/j.ajhg.2022.11.003Test

المؤلفون: Angharad M Roberts, Marina T. DiStefano, Erin Rooney Riggs, Katherine S Josephs, Fowzan S Alkuraya, Joanna Amberger, Mutaz Amin, Jonathan S. Berg, Fiona Cunningham, Karen Eilbeck, Helen V. Firth, Julia Foreman, Ada Hamosh, Eleanor Hay, Sarah Leigh, Christa L. Martin, Ellen M. McDonagh, Daniel Perrett, Erin M. Ramos, Peter N. Robinson, Ana Rath, David van Sant, Zornitza Stark, Nicola Whiffin, Heidi L. Rehm, James S. Ware

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f29c4bf960436a14a71f2e122fe1b0f3Test
https://doi.org/10.1101/2023.03.30.23287948Test

المؤلفون: Michelle C. Krzyzanowski, Cataia L. Ives, Nancy L. Jones, Barbara Entwisle, Alicia Fernandez, Theresa A. Cullen, William A. Darity, Mark Fossett, Patrick L. Remington, Maile Taualii, Consuelo H. Wilkins, Eliseo J. Pérez-Stable, Nishadi Rajapakse, Nancy Breen, Xinzhi Zhang, Deborah R. Maiese, Tabitha P. Hendershot, Meisha Mandal, Stephen Y. Hwang, Wayne Huggins, Lauren Gridley, Amanda Riley, Erin M. Ramos, Carol M. Hamilton

المصدر: American Journal of Preventive Medicine.

مصطلحات موضوعية: Epidemiology, Public Health, Environmental and Occupational Health

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::287d0d0ca5812a739f1dde2ab3f7047dTest
https://doi.org/10.1016/j.amepre.2023.03.003Test

المؤلفون: Rex L. Chisholm, Erin M. Ramos, Robb Rowley, Carol J. Bult, Madison Goldrich, Dan M. Roden, Gail P. Jarvik, Teri A. Manolio, Eric D. Green, Mary V. Relling, Marc S. Williams, Geoffrey S. Ginsburg, George A. Mensah, Patricia A. Deverka

المصدر: Am J Hum Genet

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Year in review, Family medicine, Genetics, medicine, Genomic medicine, Year in Review, business, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::337b143c324e2a13465b52285c239772Test
https://doi.org/10.1016/j.ajhg.2021.11.006Test

المؤلفون: Marina T. DiStefano, Scott Goehringer, Lawrence Babb, Fowzan S. Alkuraya, Joanna Amberger, Mutaz Amin, Christina Austin-Tse, Marie Balzotti, Jonathan S. Berg, Ewan Birney, Carol Bocchini, Elspeth A. Bruford, Alison J. Coffey, Heather Collins, Fiona Cunningham, Louise C. Daugherty, Yaron Einhorn, Helen V. Firth, David R. Fitzpatrick, Rebecca E. Foulger, Jennifer Goldstein, Ada Hamosh, Matthew R. Hurles, Sarah E. Leigh, Ivone US. Leong, Sateesh Maddirevula, Christa L. Martin, Ellen M. McDonagh, Annie Olry, Arina Puzriakova, Kelly Radtke, Erin M. Ramos, Ana Rath, Erin Rooney Riggs, Angharad M. Roberts, Charlotte Rodwell, Catherine Snow, Zornitza Stark, Jackie Tahiliani, Susan Tweedie, James S. Ware, Phillip Weller, Eleanor Williams, Caroline F. Wright, T Michael. Yates, Heidi L. Rehm

المساهمون: Wellcome Trust, British Heart Foundation

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 24(8)

مصطلحات موضوعية: Genetics & Heredity, GenCC, 0604 Genetics, Genetic Variation, 1103 Clinical Sciences, Genomics, Gene curation, Database, Genetic diagnosis, The Gene Curation Coalition, Databases, Genetic, Humans, Genetic Testing, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db382453c45f9da4d860229092aac16cTest
https://pubmed.ncbi.nlm.nih.gov/35507016Test

المؤلفون: Jessica Ezzell Hunter, Charisma L. Jenkins, Joanna E. Bulkley, Marian J. Gilmore, Kristy Lee, Christine M. Pak, Kathleen E. Wallace, Adam H. Buchanan, Ann Katherine M. Foreman, Amanda S. Freed, Scott Goehringer, Kandamurugu Manickam, Naomi J.L. Meeks, Erin M. Ramos, Neethu Shah, Robert D. Steiner, Sai Lakshmi Subramanian, Tracy Trotter, Elizabeth M. Webber, Marc S. Williams, Katrina A.B. Goddard, Bradford C. Powell

المصدر: Genet Med

مصطلحات موضوعية: Adult, Research Report, Adolescent, Chromosome Mapping, Humans, Genetic Testing, Child, Genetics (clinical), Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df9e9d41a3598fd8f8e8963d9d91cfe6Test
https://pubmed.ncbi.nlm.nih.gov/35341655Test

المؤلفون: Tabitha Hendershot, Erin M. Ramos, Catherine A. McCarty, Huaqin Helen Pan, Jonathan L. Haines, Mary L. Marazita, Carol Hamilton, Stephen Hwang, Michelle L Engle, Lisa Ann Cox

المصدر: Current Protocols

مصطلحات موضوعية: Coronavirus disease 2019 (COVID-19), Electronic data capture, Computer science, Interdisciplinary Research, Health Informatics, Updated Protocol, standard measures, General Biochemistry, Genetics and Molecular Biology, Domain (software engineering), genome‐wide association studies (GWAS), World Wide Web, Documentation, Humans, Genetic Predisposition to Disease, General Pharmacology, Toxicology and Pharmaceutics, Protocol (science), Data collection, General Immunology and Microbiology, General Neuroscience, phenotypes, Human Genetics, Environmental Exposure, Environmental exposure, Data dictionary, data collection protocols, Medical Laboratory Technology, Phenotype, Databases as Topic, environmental exposures, Software, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d021a73f040d346eed13d2497c43590Test
https://doi.org/10.1002/cpz1.149Test

المؤلفون: Robert D. Steiner, Birgit Funke, Laura V. Milko, Jonathan S. Berg, Ray E. Hershberger, Danielle R. Azzariti, Meredith A. Weaver, Christa Lese Martin, Kristy Lee, William J. Craigen, Michael S. Watson, Edgar A. Rivera-Munoz, Erin Currey, Erin M. Ramos, Rong Mao, Sharon E. Plon, Erin Rooney Riggs, Heidi L. Rehm, Annie Niehaus, Kenneth Offit

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics

مصطلحات موضوعية: ClinGen, 0301 basic medicine, Knowledge management, Computer science, Genetics, Medical, 030105 genetics & heredity, Genome, Article, Field (computer science), Domain (software engineering), 03 medical and health sciences, Resource (project management), Genomic Medicine, Databases, Genetic, Humans, Leverage (statistics), Precision Medicine, Genetics (clinical), Expert Curation, Genome, Human, Information Dissemination, business.industry, Collective intelligence, Genetic Variation, Genomics, Precision medicine, 3. Good health, 030104 developmental biology, business, Working group

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a92338093d3e298c749e53c3ae68a4f0Test
https://doi.org/10.1038/s41436-018-0267-2Test

المؤلفون: Cecelia P. Tamburro, Robert A. Hegele, Catherine Sillari, Nilanjan Chatterjee, Jack W. O’Sullivan, A. Cecile J.W. Janssens, Kelly E. Ormond, Megan C. Roberts, Robb Rowley, Samuel A. Lambert, Jacqueline S. Dron, Muin J. Khoury, Jacqueline Al MacArthur, Mark I McCarthy, Douglas F. Easton, Charles Kooperberg, Deanna Brockman, Antonis C. Antoniou, Hannah Wand, Karen Edwards, Katrina A.B. Goddard, Kim Kinnear, John Danesh, Iftikhar J. Kullo, Genevieve L. Wojcik, Erin M. Ramos, Eric Venner, Michael A. Iacocca, Peter Kraft, Michael Inouye, Amit Khera, Helen Parkinson, Katherine Vlessis

المساهمون: Lambert, Samuel A [0000-0001-8222-008X], Kullo, Iftikhar J [0000-0002-6524-3471], Dron, Jacqueline S [0000-0002-3045-6530], McCarthy, Mark I [0000-0002-4393-0510], Easton, Douglas F [0000-0003-2444-3247], Khera, Amit V [0000-0001-6535-5839], Ormond, Kelly E [0000-0002-1033-0818], Kraft, Peter [0000-0002-4472-8103], MacArthur, Jaqueline AL [0000-0002-3550-9769], Inouye, Michael [0000-0001-9413-6520], Wojcik, Genevieve L [0000-0001-7206-8088], Apollo - University of Cambridge Repository

المصدر: Nature, vol 591, iss 7849
Nature

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Multifactorial Inheritance, General Science & Technology, Computer science, Best practice, Genetics, Medical, MEDLINE, Risk Assessment, Article, Field (computer science), 03 medical and health sciences, 0302 clinical medicine, Resource (project management), Medical, Genetics, medicine, Humans, Genetic Predisposition to Disease, health care economics and organizations, Estimation, Multidisciplinary, Prevention, Human Genome, Reproducibility of Results, Benchmarking, Data science, Good Health and Well Being, 030104 developmental biology, 030220 oncology & carcinogenesis, Transparency (graphic), Medical genetics

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e15ab19fdf191c610ba5ab01b9978b75Test