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ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines por Christine G. Preston, Matt W. Wright, Rao Madhavrao, Steven M. Harrison, Jennifer Goldstein, Xi Luo, Hannah Wand, Bryan Wulf, Gloria Cheung, Mark E. Mandell, Howard Tong, Shaung Cheng, Michael A. Iacocca, Arturo López Pineda, Alice B. Popejoy, Karen Dalton, Jimmy Zhen, Selina S. Dwight, Lawrence Babb, Marina T. DiStefano, Julianne O’Daniel, Kristy Lee, Erin Rooney Riggs, Diane B. Zastrow, Jessica L. Mester, Deborah 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
Publicado em 2022Artigo
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Biology
Computational biology
Gene
Genetics
Bioinformatics
Botany
Bubble
Computer science
Data curation
Data science
Database
Genome
Genomics
Gold standard (test)
Identification (biology)
In silico
Interface (matter)
Internal medicine
Maximum bubble pressure method
Medical genetics
Medicine
Missense mutation
Mutation
Parallel computing
Workflow