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Barış Kayaalp on Muck Rack

Barış Kayaalp

As seen in: Nature
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Articles

Prediction of human missense variant effects from functional evidence

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By Barış Kayaalp, Clément Conil, Aurélie Cobat, Meltem Ece Kars, Yuval Itan, Jean-Laurent Casanova Verified, Tayfun Özçelik, Kerem Çil
| Nature Verified
Abstract Prediction of missense variant effects remains a critical bottleneck in both research and diagnostic genetics. Current predictors typically rely on clinical outcomes or population patterns rather than direct measures of functional impact, leading to limited generalizability and data circularity. Here we present FuncVEP, a family of variant effect predictors trained on diverse functional data to predict the functional impact of missense variants.
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Inherited burden for disease predisposition in diverse populations - npj Genomic Medicine

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By Barış Kayaalp, Meltem Ece Kars, Yuval Itan, Ayse Basak, Jean-Laurent Casanova Verified, Tayfun Özçelik
| Nature Verified
Abstract We leveraged allele frequencies from gnomAD, Regeneron Genetics Center Million Exome and Turkish Variome for 4591 disease genes from PanelApp and OMIM, and identified 97,135 pathogenic and 478,263 likely pathogenic variants using an American College of Medical Genetics and Genomics-based classifier. This expanded pathogenic and likely pathogenic variants nearly six-fold.
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