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pro vyhledávání: '"Erin R. Riggs"'
Autor:
Christine G. Preston, Matt W. Wright, Rao Madhavrao, Steven M. Harrison, Jennifer L. Goldstein, Xi Luo, Hannah Wand, Bryan Wulf, Gloria Cheung, Mark E. Mandell, Howard Tong, Shaung Cheng, Michael A. Iacocca, Arturo Lopez Pineda, Alice B. Popejoy, Karen Dalton, Jimmy Zhen, Selina S. Dwight, Lawrence Babb, Marina DiStefano, Julianne M. O’Daniel, Kristy Lee, Erin R. Riggs, Diane B. Zastrow, Jessica L. Mester, Deborah I. Ritter, Ronak Y. Patel, Sai Lakshmi Subramanian, Aleksander Milosavljevic, Jonathan S. Berg, Heidi L. Rehm, Sharon E. Plon, J. Michael Cherry, Carlos D. Bustamante, Helio A. Costa, on behalf of the Clinical Genome Resource (ClinGen)
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-12 (2022)
Abstract Background Identification of clinically significant genetic alterations involved in human disease has been dramatically accelerated by developments in next-generation sequencing technologies. However, the infrastructure and accessible compre
Externí odkaz:
https://doaj.org/article/c5ae77d69fae41bca5be493d02302150
Autor:
Nicole A Vasilevsky, Nicolas A Matentzoglu, Sabrina Toro, Joseph E Flack, Harshad Hegde, Deepak R Unni, Gioconda F Alyea, Joanna S Amberger, Larry Babb, James P Balhoff, Taylor I Bingaman, Gully A Burns, Orion J Buske, Tiffany J Callahan, Leigh C Carmody, Paula Carrio Cordo, Lauren E Chan, George S Chang, Sean L Christiaens, Michel Dumontier, Laura E Failla, May J Flowers, H. Alpha Garrett, Jennifer L Goldstein, Dylan Gration, Tudor Groza, Marc Hanauer, Nomi L Harris, Jason A Hilton, Daniel S Himmelstein, Charles Tapley Hoyt, Megan S Kane, Sebastian Köhler, David Lagorce, Abbe Lai, Martin Larralde, Antonia Lock, Irene López Santiago, Donna R Maglott, Adriana J Malheiro, Birgit H M Meldal, Monica C Munoz-Torres, Tristan H Nelson, Frank W Nicholas, David Ochoa, Daniel P Olson, Tudor I Oprea, David Osumi-Sutherland, Helen Parkinson, Zoë May Pendlington, Ana Rath, Heidi L Rehm, Lyubov Remennik, Erin R Riggs, Paola Roncaglia, Justyne E Ross, Marion F Shadbolt, Kent A Shefchek, Morgan N Similuk, Nicholas Sioutos, Damian Smedley, Rachel Sparks, Ray Stefancsik, Ralf Stephan, Andrea L Storm, Doron Stupp, Gregory S Stupp, Jagadish Chandrabose Sundaramurthi, Imke Tammen, Darin Tay, Courtney L Thaxton, Eloise Valasek, Jordi Valls-Margarit, Alex H Wagner, Danielle Welter, Patricia L Whetzel, Lori L Whiteman, Valerie Wood, Colleen H Xu, Andreas Zankl, Xingmin Aaron Zhang, Christopher G Chute, Peter N Robinson, Christopher J Mungall, Ada Hamosh, Melissa A Haendel
There are thousands of distinct disease entities and concepts, each of which are known by different and sometimes contradictory names. The lack of a unified system for managing these entities poses a major challenge for both machines and humans that
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::eb95e9f275c4c5ac6590aa22f6896dbb
https://doi.org/10.1101/2022.04.13.22273750
https://doi.org/10.1101/2022.04.13.22273750