Fig. 1
From: Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes
Schematic workflow. ALoFT uses a VCF file as input and annotates premature stop, frameshift-causing indel and canonical splice-site mutations with functional, conservation, and network features. ALoFT also flags potential mismapping and annotation errors. Using the annotation features, ALoFT predicts the pathogenicity (as either benign, recessive, or dominant disease-causing) of premature stop and frameshift mutations based on a model trained on known data. ALoFT can also take as input a five-column tab-delimited file containing chromosome, position, variant ID, reference allele, and alternate allele as its columns
