Data sources

At Genebe, we believe that providing accurate and up-to-date information is crucial for our users. That's why we continuously update our data sources to ensure that we provide the latest and most reliable information possible. Below is a list of the data sources we currently use to provide our users with the most comprehensive and accurate information.
Please note that the list provided below is not comprehensive and is subject to change. We are continuously adding new data sources to our platform, and some of the sources we use are not yet listed here. We apologize for any inconvenience this may cause, and we are working to update the list regularly.

MetaRNN

Li, C., Zhi, D., Wang, K. et al. MetaRNN: differentiating rare pathogenic and rare benign missense SNVs and InDels using deep learning. Genome Med 14, 115 (2022). https://doi.org/10.1186/s13073-022-01120-z

dbNSFP

Liu, X., Li, C., Mou, C. et al. dbNSFP v4: a comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs. Genome Med 12, 103 (2020). https://doi.org/10.1186/s13073-020-00803-9

BayesDel

Feng B. J. (2017). PERCH: A Unified Framework for Disease Gene Prioritization. Human mutation, 38(3), 243–251. https://doi.org/10.1002/humu.23158

VEP

McLaren W, Gil L, Hunt SE, Riat HS, Ritchie GR, Thormann A, Flicek P, Cunningham F. The Ensembl Variant Effect Predictor. Genome Biology Jun 6;17(1):122. (2016) doi:10.1186/s13059-016-0974-4

GnomAD 4 and more