Genomic Variants

About Genomic Variants module

The genomic variants module integrate single nucleotide variants and trait-associated mutations with RBP binding sites to provide insights into the causal SNVs underlying regulatory mechanisms and different traits. As RBPs are related to SNV recognition and function, correlating between variants and RBP binding sites could lead to discoveries of their relationship.

1. dbSNP: Sayers EW, Beck J, Bolton EE, et al. Database resources of the National Center for Biotechnology Information. Nucleic Acids Res. 2021;49(D1):D10-D17.
2. 1000 Genomes: 1000 Genomes Project Consortium, Auton A, Brooks LD, et al. A global reference for human genetic variation. Nature. 2015;526(7571):68-74.
3. GnomAD: Karczewski KJ, Francioli LC, Tiao G, et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020;581(7809):434-443.
4. GTEx eQTL: GTEx Consortium, et al. Genetic effects on gene expression across human tissues. Nature. 2017;550(7675):204-213.
5. GTEx sQTL: GTEx Consortium, et al. The GTEx Consortium atlas of genetic regulatory effects across human tissues. Science. 2020;369(6509):1318-1330.