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


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.

SUBMITTER: Wu Y 

PROVIDER: S-EPMC6735881 | biostudies-other | 2019 Sep

REPOSITORIES: biostudies-other

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

Wu Yingzhou Y   Weile Jochen J   Cote Atina G AG   Sun Song S   Knapp Jennifer J   Verby Marta M   Roth Frederick P FP  

Bioinformatics (Oxford, England) 20190901 17


<h4>Summary</h4>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.<h4>Availability and implementation  ...[more]

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