المؤلفون: Andrew G. Sharo, Yangyun Zou, Aashish N. Adhikari, Steven E. Brenner

المصدر: Genome Medicine, Vol 15, Iss 1, Pp 1-19 (2023)

مصطلحات موضوعية: ClinVar, HGMD, Pathogenic variant, Variant curation, Variant classification, Inborn errors of metabolism, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/8ec62b805d334a6381c9b3be4c6d0095

المؤلفون: Joseph T. Shieh, Monica Penon-Portmann, Karen H. Y. Wong, Michal Levy-Sakin, Michelle Verghese, Anne Slavotinek, Renata C. Gallagher, Bryce A. Mendelsohn, Jessica Tenney, Daniah Beleford, Hazel Perry, Stephen K. Chow, Andrew G. Sharo, Steven E. Brenner, Zhongxia Qi, Jingwei Yu, Ophir D. Klein, David Martin, Pui-Yan Kwok, Dario Boffelli

المصدر: npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/9a465491e52f48439eba018a2a0c7a7a

المؤلفون: Joseph T. Shieh, Monica Penon-Portmann, Karen H. Y. Wong, Michal Levy-Sakin, Michelle Verghese, Anne Slavotinek, Renata C. Gallagher, Bryce A. Mendelsohn, Jessica Tenney, Daniah Beleford, Hazel Perry, Stephen K. Chow, Andrew G. Sharo, Steven E. Brenner, Zhongxia Qi, Jingwei Yu, Ophir D. Klein, David Martin, Pui-Yan Kwok, Dario Boffelli

المصدر: npj Genomic Medicine, Vol 6, Iss 1, Pp 1-1 (2021)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/5e3c11cfdf3f4c82bfe28483d4bc97d0

المؤلفون: Andrew G. Sharo, Yangyun Zou, Aashish N. Adhikari, Steven E. Brenner

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::da741b805ea1766bdb9acda89238a555
https://doi.org/10.1101/2022.10.26.22281567

المؤلفون: Bryce A. Mendelsohn, Pui-Yan Kwok, Dario Boffelli, Karen H. Y. Wong, Jingwei Yu, Anne Slavotinek, Ophir D. Klein, Michal Levy-Sakin, David Martin, Michelle Verghese, Daniah Beleford, Joseph T. Shieh, Renata C. Gallagher, Monica Penon-Portmann, Zhongxia Qi, Andrew G. Sharo, Steven E. Brenner, Hazel Perry, Stephen K. Chow, Jessica Tenney

المصدر: NPJ genomic medicine, vol 6, iss 1
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)
NPJ Genomic Medicine

مصطلحات موضوعية: Prioritization, Future application, Computational biology, Biology, QH426-470, Genome, Article, Gene duplication, Genetics, Genetic Testing, Molecular Biology, Genetics (clinical), Analysis method, screening and diagnosis, Prevention, Medical genetics, Breakpoint, Human Genome, Paediatrics, Publisher Correction, 4.1 Discovery and preclinical testing of markers and technologies, Detection, Medicine, Generic health relevance, 4.2 Evaluation of markers and technologies

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5e36416afde28cc435320747fc41c9e
https://escholarship.org/uc/item/8xw3j9km

المؤلفون: Barbara A. Koenig, Steven E. Brenner, Russ B. Altman, Gregory McInnes, Jodi Halpern, David Magnus, Sheng Wang, Aashish N. Adhikari, Megan L. Koleske, Renata C. Gallagher, Andrew G. Sharo, Kathleen M. Giacomini, Julia E.H. Brown, Matthew Norstad

المصدر: American journal of human genetics, vol 108, iss 4
American Journal of Human Genetics

مصطلحات موضوعية: 0301 basic medicine, Computer science, Genetics, Medical, media_common.quotation_subject, Variation (game tree), Disease, Computational biology, 030105 genetics & heredity, Genome, Medical and Health Sciences, Machine Learning, 03 medical and health sciences, Medical, Genetic variation, Genetics, Humans, 2.1 Biological and endogenous factors, Aetiology, Precision Medicine, Function (engineering), Gene, Genetics (clinical), media_common, Genetics & Heredity, Genome, Human, Inborn Errors, Prevention, Human Genome, Infant, Newborn, Infant, Genetic Variation, Genomics, Biological Sciences, Newborn, Health equity, 030104 developmental biology, Good Health and Well Being, Metabolism, Pharmacogenetics, Pharmacogenomics, Perspective, Patient Safety, Generic health relevance, Metabolism, Inborn Errors, Human, Biotechnology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a433117908dee100cd8bb1b9a46a185
https://escholarship.org/uc/item/0498z4kt

المؤلفون: Renata C. Gallagher, Megan L. Koleske, Barbara A. Koenig, Jodi Halpern, Brown Jeh, Andrew G. Sharo, Steven E. Brenner, Aashish N. Adhikari, Russ B. Altman, Gregory McInnes, Kathleen M. Giacomini, David Magnus, Wang S, Matthew Norstad

مصطلحات موضوعية: 0303 health sciences, 03 medical and health sciences, 0302 clinical medicine, Variation (linguistics), 030220 oncology & carcinogenesis, biochemistry, Genomics, Computational biology, Biology, Precision medicine, Gene, 030304 developmental biology, 3. Good health

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4038116f0bd48764870274ada4e74e78
https://doi.org/10.20944/preprints202011.0599.v1

المؤلفون: Jingwei Yu, Michelle Verghese, Stephen K. Chow, Ophir D. Klein, Zhongxia Qi, Joseph T. Shieh, Karen H. Y. Wong, Andrew G. Sharo, Michal Levy-Sakin, Pui-Yan Kwok, Dario Boffelli, Anne Slavotinek, Bryce A. Mendelsohn, Renata C. Gallagher, David Martin, Jessica Tenney, Daniah Beleford, Hazel Perry, Steven E. Brenner, Monica Penon-Portmann

مصطلحات موضوعية: Prioritization, Gene duplication, Breakpoint, Future application, Computational biology, Biology, Genome, Analysis method

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::bdfcc2c7f13b23a303fddd5f79824b53
https://doi.org/10.1101/2020.10.22.20216531

المؤلفون: Karen H. Y. Wong, Steven E. Brenner, Renata C. Gallagher, David I. K. Martin, Monica Penon-Portmann, Michal Levy-Sakin, Andrew G. Sharo, Bryce A. Mendelsohn, Pui-Yan Kwok, Dario Boffelli, Michelle Verghese, Jessica Tenney, Hazel Perry, Anne Slavotinek, Daniah Beleford, Zhongxia Qi, Stephen K. Chow, Ophir D. Klein, Joseph T. Shieh, Jingwei Yu

المصدر: npj Genomic Medicine, Vol 6, Iss 1, Pp 1-1 (2021)

مصطلحات موضوعية: business.industry, Published Erratum, MEDLINE, Genetics, Medicine, Computational biology, QH426-470, business, Molecular Biology, Genome, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::466ac6f5a65067f88aeb7c24e21a2070
https://doaj.org/article/5e3c11cfdf3f4c82bfe28483d4bc97d0

المؤلفون: Andrew G. Sharo, Howard A. Stone, Ned S. Wingreen, Jing Yan, Bonnie L. Bassler

مصطلحات موضوعية: 0301 basic medicine, 030106 microbiology, Cell, Mutagenesis (molecular biology technique), Matrix (biology), Biology, medicine.disease_cause, Bacterial Adhesion, Microbiology, 03 medical and health sciences, Single-cell analysis, Bacterial Proteins, Live cell imaging, medicine, Humans, Vibrio cholerae, Cell Proliferation, Multidisciplinary, Biofilm, biochemical phenomena, metabolism, and nutrition, biology.organism_classification, Cell biology, 030104 developmental biology, medicine.anatomical_structure, PNAS Plus, Biofilms, Single-Cell Analysis, Bacteria

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65ecc77b357413528b5ee39516d569c2
https://europepmc.org/articles/PMC5018804/