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A web application and service for imputing and visualizing missense variant effect maps

SUMMARY: The promise of personalized genomic medicine depends on our ability to assess the functional impact of rare sequence variation. Multiplexed assays can experimentally measure the functional impact of missense variants on a massive scale. However, even after such assays, many missense variant...

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Detalles Bibliográficos
Autores principales: Wu, Yingzhou, Weile, Jochen, Cote, Atina G, Sun, Song, Knapp, Jennifer, Verby, Marta, Roth, Frederick P
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6735881/
https://www.ncbi.nlm.nih.gov/pubmed/30649215
http://dx.doi.org/10.1093/bioinformatics/btz012