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. 2019 Sep 1;35(17):3191-3193.
doi: 10.1093/bioinformatics/btz012.

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

Yingzhou Wu  1   2   3   4 , Jochen Weile  1   2   3   4 , Atina G Cote  1   4 , Song Sun  1   4 , Jennifer Knapp  1   4 , Marta Verby  1   4 , Frederick P Roth  1   2   3   4   5   6
Affiliations

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

Yingzhou Wu et al. Bioinformatics. .

Abstract

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.

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Figures

Fig. 1.
Fig. 1.
(A) The front-end web application. (B) The back-end application for data processing and machine learning workflow
See this image and copyright information in PMC

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