المؤلفون: Christina A. Austin-Tse, Vaidehi Jobanputra, Denise L. Perry, David Bick, Ryan J. Taft, Eric Venner, Richard A. Gibbs, Ted Young, Sarah Barnett, John W. Belmont, Nicole Boczek, Shimul Chowdhury, Katarzyna A. Ellsworth, Saurav Guha, Shashikant Kulkarni, Cherisse Marcou, Linyan Meng, David R. Murdock, Atteeq U. Rehman, Elizabeth Spiteri, Amanda Thomas-Wilson, Hutton M. Kearney, Heidi L. Rehm, Medical Genome Initiative

المصدر: npj Genomic Medicine, Vol 7, Iss 1, Pp 1-13 (2022)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2056-7944

URL الوصول: https://doaj.org/article/6905d648dde247ee8ce993083466d75f

المؤلفون: Robin Z. Hayeems, David Dimmock, David Bick, John W. Belmont, Robert C. Green, Brendan Lanpher, Vaidehi Jobanputra, Roberto Mendoza, Shashi Kulkarni, Megan E. Grove, Stacie L. Taylor, Euan Ashley, Medical Genome Initiative

المصدر: npj Genomic Medicine, Vol 5, Iss 1, Pp 1-11 (2020)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2056-7944

URL الوصول: https://doaj.org/article/1ed1964adc59405fabebc0e2ef72b8b1

المؤلفون: Vaidehi Jobanputra, Brock Schroeder, Heidi L. Rehm, Wei Shen, Elizabeth Spiteri, Ghunwa Nakouzi, Stacie Taylor, Christian R. Marshall, Linyan Meng, Stephen F. Kingsmore, Katarzyna Ellsworth, Euan Ashley, Ryan J. Taft, on behalf of the Medical Genome Initiative

المصدر: npj Genomic Medicine, Vol 9, Iss 1, Pp 1-3 (2024)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2056-7944

URL الوصول: https://doaj.org/article/9bb3ad6b45f84c10a06a89c6cbf0b68e

المؤلفون: Christian R. Marshall, David Bick, John W. Belmont, Stacie L. Taylor, Euan Ashley, David Dimmock, Vaidehi Jobanputra, Hutton M. Kearney, Shashikant Kulkarni, Heidi Rehm, on behalf of the Medical Genome Initiative

المصدر: Genome Medicine, Vol 12, Iss 1, Pp 1-4 (2020)

مصطلحات موضوعية: Clinical whole-genome sequencing, Diagnostics, Standards, Rare genetic disease, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13073-020-00748-z; https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/4264dfc1843f467c90a0e29dff46fc69

المؤلفون: David Dimmock, Robert C. Green, Shashi Kulkarni, Medical Genome Initiative, Euan A. Ashley, John W Belmont, Stacie L Taylor, Brendan C. Lanpher, Vaidehi Jobanputra, Megan E. Grove, Roberto Mendoza, Robin Z. Hayeems, David P. Bick

المصدر: NPJ Genomic Medicine
npj Genomic Medicine, Vol 5, Iss 1, Pp 1-11 (2020)

مصطلحات موضوعية: 0301 basic medicine, Genetic testing, Molecular medicine, Process (engineering), Computer science, Genomic sequencing, Best practice, Stakeholder, MEDLINE, Context (language use), Review Article, QH426-470, 030105 genetics & heredity, Data science, 03 medical and health sciences, 030104 developmental biology, Resource (project management), Outcomes research, Genetics, Medicine, Molecular Biology, Medical genomics, Genetics (clinical), Reimbursement

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87a8ba081b7ccd1591c49b2d7843374d
http://europepmc.org/articles/PMC7738524

المؤلفون: Elizabeth A. Worthey, Jillian G. Buchan, Shashikant Kulkarni, David Dimmock, Pengfei Liu, Hutton M. Kearney, Christian R. Marshall, Ross A. Rowsey, Dimitri J. Stavropoulos, Eric W. Klee, Shimul Chowdhury, Vaidehi Jobanputra, John W Belmont, Medical Genome Initiative, Ryan J. Taft, Steven M. Harrison, Niall J. Lennon, Stacie L Taylor, David P. Bick, Mathew S Lebo

المصدر: NPJ Genomic Medicine
npj Genomic Medicine, Vol 5, Iss 1, Pp 1-12 (2020)

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Genetic testing, lcsh:QH426-470, Computer science, Best practice, lcsh:Medicine, Disease, Test validity, Review Article, 030105 genetics & heredity, 03 medical and health sciences, Health care, Genetics, medicine, Medical physics, Molecular Biology, Genetics (clinical), Whole genome sequencing, medicine.diagnostic_test, Test design, business.industry, lcsh:R, Laboratory techniques and procedures, Test (assessment), lcsh:Genetics, 030104 developmental biology, Next-generation sequencing, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9150633acf9e80905d11e574ec47a8b
https://pubmed.ncbi.nlm.nih.gov/33110627