ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines

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 comprehensive curation tools necessary for analyzing an individu...

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Detalles Bibliográficos
Autores principales: Preston, Christine G., Wright, Matt W., Madhavrao, Rao, Harrison, Steven M., Goldstein, Jennifer L., Luo, Xi, Wand, Hannah, Wulf, Bryan, Cheung, Gloria, Mandell, Mark E., Tong, Howard, Cheng, Shaung, Iacocca, Michael A., Pineda, Arturo Lopez, Popejoy, Alice B., Dalton, Karen, Zhen, Jimmy, Dwight, Selina S., Babb, Lawrence, DiStefano, Marina, O’Daniel, Julianne M., Lee, Kristy, Riggs, Erin R., Zastrow, Diane B., Mester, Jessica L., Ritter, Deborah I., Patel, Ronak Y., Subramanian, Sai Lakshmi, Milosavljevic, Aleksander, Berg, Jonathan S., Rehm, Heidi L., Plon, Sharon E., Cherry, J. Michael, Bustamante, Carlos D., Costa, Helio A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Software
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8764818/
https://www.ncbi.nlm.nih.gov/pubmed/35039090
http://dx.doi.org/10.1186/s13073-021-01004-8

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