Disease Mutations

About Disease Mutations Module

The disease mutations module integrates SNVs and disease-associated SNVs with RBP binding sites to provide insights into the causal SNVs underlying regulatory mechanisms and human diseases. Disease-related SNVs could be regulated by RBPs, and thus linking them could shed light on the correlation between RBPs and disease.

1. GWASdb2: Li MJ, Liu Z, Wang P, et al. GWASdb v2: an update database for human genetic variants identified by genome-wide association studies. Nucleic Acids Res. 2016;44(D1):D869-D876.
2. ClinVar: Landrum MJ, Chitipiralla S, Brown GR, et al. ClinVar: improvements to accessing data. Nucleic Acids Res. 2020;48(D1):D835-D844.
3. COSMIC: John GT, Sally B, Harry CJ, et al. COSMIC: the Catalogue Of Somatic Mutations In Cancer. Nucleic Acids Res. 2019;47(D1):D941-D947.
4. TCGA whole-genome SNVs: Alexandrov LB, Nik-Zainal S, Wedge DC, et al. Signatures of mutational processes in human cancer. Nature. 2013;500(7463):415-421.
5. TCGA whole-exome SNVs: Ellrott K, Bailey MH, Saksena G, et al. Scalable Open Science Approach for Mutation Calling of Tumor Exomes Using Multiple Genomic Pipelines. Cell Syst. 2018;6(3):271-281.e7.
6. CCLE: Ghandi M, Huang FW, Jané-Valbuena J, et al. Next-generation characterization of the Cancer Cell Line Encyclopedia. Nature. 2019;569(7757):503-508.
7. Denovo-db: Turner TN, Yi Q, Krumm N, et al. denovo-db: a compendium of human de novo variants. Nucleic Acids Res. 2017;45(D1):D804-D811.
8. HmtDB: Preste R, Vitale O, Clima R, Gasparre G, Attimonelli M. HmtDB 2016: data update, a better performing query system and human mitochondrial DNA haplogroup predictor. Nucleic Acids Res. 2019;47(D1):D1202-D1210.