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LoFtool: a gene intolerance score based on loss-of-function variants in 60 706 individuals
Author(s) -
João Fadista,
Nikolay Oskolkov,
Ola Hansson,
Leif Groop
Publication year - 2016
Publication title -
bioinformatics
Language(s) - English
Resource type - Journals
eISSN - 1367-4811
pISSN - 1367-4803
DOI - 10.1093/bioinformatics/btv602
Subject(s) - haploinsufficiency , gene , loss function , genetics , biology , mutation , function (biology) , computational biology , phenotype
Depletion of loss-of-function (LoF) mutations may provide a rank of genic functional intolerance and consequently susceptibility to disease.

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