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satmut_utils: a simulation and variant calling package for multiplexed assays of variant effect

The impact of millions of individual genetic variants on molecular phenotypes in coding sequences remains unknown. Multiplexed assays of variant effect (MAVEs) are scalable methods to annotate relevant variants, but existing software lacks standardization, requires cumbersome configuration, and does...

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Detalles Bibliográficos
Autores principales: Hoskins, Ian, Sun, Song, Cote, Atina, Roth, Frederick P., Cenik, Can
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10116734/
https://www.ncbi.nlm.nih.gov/pubmed/37081510
http://dx.doi.org/10.1186/s13059-023-02922-z