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Functionally derived variant dataset

Published on by KHALID MAHMOOD
Here we provide genetic variant data mined from large scale biochemical assays of protein function. These dataset will serve as a valuable resource for assessing performance of variant effect prediction methods. The dataset are: UniFun - derived from UniProt mutagenesis data BRCA1-DMS - derived from the deep mutational scanning (DMS) protocol applied to BRCA1 TP53-TA - TP53 transactivation assay (Kato et al. 2003). Here we make available the variants in VCF format. Please cite: Khalid Mahmood, Chol-hee Jung, Gayle Philip, Peter Georgeson, Jessica Chung, Bernard J. Pope and Daniel J. Park*, Variant effect prediction tools assessed using independent, functional assay-based datasets: implications for discovery and diagnostics.

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