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

ABSTRACT:

Background

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. The association of LoF variants with complex diseases and traits may lead to the discovery and validation of novel therapeutic targets. 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 (CH) LoF variants.

Results

We have developed the Loss-of-Function ToolKit (LoFTK), which allows efficient and automated prediction of LoF variants from genotyped, imputed and sequenced genomes. LoFTK enables the identification of genes that

SUBMITTER: Alasiri A 

PROVIDER: S-EPMC9893534 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature