Article

LoFTK: a framework for fully automated calculation of predicted Loss-of-Function variants

2021-08-10

Abstract excerpt

<h4>Motivation</h4> Loss-of-Function (LoF) variants in human genes are important due to their impact on clinical phenotypes and frequent occurrence in the genomes of healthy individuals. Current approaches predict high-confidence LoF variants without identifying the specific genes or the number of copies they affect. Moreover, there is a lack of methods for detecting knockout genes caused by compound heterozygous...

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Literature Corpus work: f5f9a97e-4d7d-5601-9c91-de2f69de82bd
DOI: 10.1101/2021.08.09.455694

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