LoFtool

Summary: A VEP plugin to add LoFtool scores

Contributor(s): João Fadista

Description: LoFtool provides a rank of genic intolerance and consequent susceptibility to disease based on the ratio of Loss-of-function (LoF) to synonymous mutations for each gene in 60,706 individuals from ExAC, adjusting for the gene de novo mutation rate and evolutionary protein conservation. The lower the LoFtool gene score percentile the most intolerant is the gene to functional variation. Manuscript in preparation (please contact Dr. Joao Fadista – joao.fadista@med.lu.se). The authors would like to thank the Exome Aggregation Consortium and the groups that provided exome variant data for comparison. A full list of contributing groups can be found at http://exac.broadinstitute.org/about.

Download URLhttps://github.com/ensembl-variation/VEP_plugins/blob/master/LoFtool.pm

Licence: Ensembl

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