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broadinstitute / genetic-prevalence-estimator

https://genie.broadinstitute.org/
BSD 3-Clause "New" or "Revised" License
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Genetic Prevalence Estimator, GeniE

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The prevalence GeniE tool aims to estimate carrier frequency and genetic prevalence for recessive conditions using allele frequencies from population data in gnomAD. We provide support for creating variant lists from ClinVar and gnomAD, or allow users to build their own custom list using gnomAD IDs.

Website

https://genie.broadinstitute.org/

Development

See CONTRIBUTING.md.