The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system

Autor: Batsal Devkota, Michal Kouril, Joseph W. St. Geme, Alba Gutierrez, Simone Temporal, Keith Marsolo, Peter White, Joseph A. Majzoub, Alan Yen, Jaspreet Khanna, Julie Wijesooriya, Mike Furgason, Florence T. Bourgeois, Christopher Geehan, Adda Grimberg, Arnold W. Strauss, Becca Harper, Kristen Safier, Aleksandr Nikitin, Andrew Wooten, Vidhu V Thaker, Deanne Taylor, Ingo Helbig, Darlene Barkman, Anil Kumar Degala, Gelvina Stevenson, Eric D. Marsh, Colin P. Hawkes, Andrew Dauber, Jason Stedman, In-Hee Lee, Andrew M. Rupert, Gary R. Fleisher, Ramkrishna Chakrabarty, Piotr Sliz, Alyssa Ellis, Barbara Hallinan, Kenneth D. Mandl, Susan Kornetsky, Bryan A. Wolf, Philip Dexheimer, Alan H. Beggs, Yu Zhang, Erin M. Borglund, Joel N. Hirschhorn, Andrew Joseph Guidetti, Amy Schwarzhoff, Anna Poduri, Gabor Korodi, Louis J. Muglia, Prakash Velayutham, Christopher P. Kirby, Mike Pistone, Allison Heath, Parth Divekar, Judson Kilbourn, Ranjay Kumar, Guillaume Labilloy, Alka Chandel, Ian D. Krantz, Thomas N DeSain, Kristen L. Sund, Lisa J. Martin, James Morgan, Jeremy Nix, Sawona Biswas, Tracy A. Glauser, Paul Avillach, Sek Won Kong, Niloofar Jalali, Jeremy J. Corsmo, Anna Bartels, Amy Kratchman, Bria Morgan

Publikováno v: Genetics in Medicine

Purpose Clinicians and researchers must contextualize a patient’s genetic variants against population-based references with detailed phenotyping. We sought to establish globally scalable technology, policy, and procedures for sharing biosamples and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2bcf3e4ee8562cecd775d190e3d12ad
https://doi.org/10.1038/s41436-019-0646-3

Correction: The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system

Autor: Kenneth D. Mandl, Tracy Glauser, Ian D. Krantz, Paul Avillach, Anna Bartels, Alan H. Beggs, Sawona Biswas, Florence T. Bourgeois, Jeremy Corsmo, Andrew Dauber, Batsal Devkota, Gary R. Fleisher, Allison P. Heath, Ingo Helbig, Joel N. Hirschhorn, Judson Kilbourn, Sek Won Kong, Susan Kornetsky, Joseph A. Majzoub, Keith Marsolo, Lisa J. Martin, Jeremy Nix, Amy Schwarzhoff, Jason Stedman, Arnold Strauss, Kristen L. Sund, Deanne M. Taylor, Peter S. White, Eric Marsh, Adda Grimberg, Colin Hawkes, Darlene Barkman, Erin M. Borglund, Ramkrishna Chakrabarty, Alka Chandel, Anil Kumar Degala, Thomas DeSain, Philip Dexheimer, Parth Divekar, Alyssa Ellis, Mike Furgason, Christopher Geehan, Andrew Joseph Guidetti, Alba Gutierrez, Barbara Hallinan, Becca Harper, Niloofar Jalali, Jaspreet Khanna, Christopher Kirby, Gabor Korodi, Michal Kouril, Amy Kratchman, Ranjay Kumar, Guillaume Labilloy, In-Hee Lee, Bria Morgan, James Morgan, Louis J Muglia, Aleksandr Nikitin, Mike Pistone, Anna Poduri, Andrew Rupert, Kristen Safier, Piotr Sliz, Gelvina Stevenson, Joseph St. Geme, Vidhu Thaker, Simone Temporal, Prakash Velayutham, Julie Wijesooriya, Bryan Wolf, Andrew Wooten, Alan Yen, Yu Zhang

Publikováno v: Genetics in Medicine

Clinicians and researchers must contextualize a patient's genetic variants against population-based references with detailed phenotyping. We sought to establish globally scalable technology, policy, and procedures for sharing biosamples and associate

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::617a6b179ff0f7046943ca4b8c1baaf9
https://doi.org/10.1038/s41436-019-0711-y

Ethics of Placebo Control in Trials for Idiopathic Sudden Sensorineural Hearing Loss

Autor: Miguel Maldonado Fernández, Laura Rubio Rodriguez, Susan Kornetsky

Publikováno v: Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery. 155(1)

Idiopathic sudden sensorineural hearing loss (ISSHL) involves sudden loss of hearing from cochlear or retrocochlear origin of unknown cause. Systemic corticosteroids may be considered in the management of ISSNHL. However, an updated Cochrane systemat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d3ca5bcb3296863c8778aacd5d55900
https://pubmed.ncbi.nlm.nih.gov/27371619

Guidelines for return of research results from pediatric genomic studies: deliberations of the Boston Children's Hospital Gene Partnership Informed Cohort Oversight Board

Autor: Patrick L. Taylor, Ingrid A. Holm, Susan Kornetsky, Amy L. McGuire, Steven Joffe, Eric T. Juengst, Robert C. Green, Sarah K. Savage, Stephanie J. Brewster

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics. 16(7)

Approaches to return individual results to participants in genomic research variably focus on actionability, duty to share, or participants' preferences. Our group at Boston Children's Hospital has prioritized participants' preferences by implementin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30334ef6b48949d09e55ffdf5d971c4a
https://pubmed.ncbi.nlm.nih.gov/24406460

Knowledge of regulations governing pediatric research: a pilot study

Autor: Annemarie, Stroustrup, Susan, Kornetsky, Steven, Joffe

Publikováno v: IRB. 30(5)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::141ba31504906edfbc314735e7588a59
https://pubmed.ncbi.nlm.nih.gov/18953770