IMPACT

Annotations produced by IMPACT (Inference and Modeling of Phenotype-related ACtive Transcription) to predict functional impact of genome sequence variation.

https://github.com/immunogenomics/IMPACT

These annotations have been reformatted as tabix-indexed files for rapid queries, and are used by echolocatoR to perform in silico validation analyses. Data has been reprocessed to enable API access and querying of files using tabix.

https://github.com/RajLabMSSM/echolocatoR

If you use these annotations, please cite the following:

Amariuta T, Luo Y, Gazal S, et al. IMPACT: Genomic Annotation of Cell-State-Specific Regulatory Elements Inferred from the Epigenome of Bound Transcription Factors. Am J Hum Genet. 2019;104(5):879-895. doi:10.1016/j.ajhg.2019.03.012

Amariuta T, Ishigaki K, Sugishita H, et al. Improving the trans-ancestry portability of polygenic risk scores by prioritizing variants in predicted cell-type-specific regulatory elements. Nat Genet. 2020;52(12):1346-1354. doi:10.1038/s41588-020-00740-8

Schilder BM, Humphrey J, Raj T. echolocatoR: an automated end-to-end statistical and functional genomic fine-mapping pipeline. Bioinformatics. 2021;btab658. doi:10.1093/bioinformatics/btab658

Schilder, Brian. (2022). IMPACT [Data set]. Zenodo. https://doi.org/10.5281/zenodo.7062238