Faster and more accurate pathogenic combination predictions with VarCoPP2.0.

ABSTRACT:

Background

The prediction of potentially pathogenic variant combinations in patients remains a key task in the field of medical genetics for the understanding and detection of oligogenic/multilocus diseases. Models tailored towards such cases can help shorten the gap of missing diagnoses and can aid researchers in dealing with the high complexity of the derived data. The predictor VarCoPP (Variant Combinations Pathogenicity Predictor) that was published in 2019 and identified potentially pathogenic variant combinations in gene pairs (bilocus variant combinations), was the first important step in this direction. Despite its usefulness and applicability, several issues still remained that hindered a better performance, such as its False Positive (FP) rate, the quality of its training

SUBMITTER: Versbraegen N 

PROVIDER: S-EPMC10152795 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature