Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels

2022-11-01 genetic and genomic medicine Title + abstract only

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BackgroundThe use of in silico pathogenicity predictions as evidence when interpreting genetic variants is widely accepted as part of standard variant classification guidelines. Although numerous algorithms have been developed and evaluated for classifying missense variants, in-frame insertions/deletions (indels) have been much less well studied. MethodsWe created a dataset of 3964 small (<100bp) indels predicted to result in in-frame amino acid insertions or deletions using data from gnomAD v3...

Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels

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