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...

Descripción completa

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:
Applications Notes
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
Descripción
Sumario: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 variants remain poorly measured. Here we describe a software pipeline and application to impute missing information in experimentally determined variant effect maps. AVAILABILITY AND IMPLEMENTATION: http://impute.varianteffect.org source code: https://github.com/joewuca/imputation. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

Ejemplares similares