IMPACT

<p>Annotations produced by <strong>IMPACT</strong> (Inference and Modeling of Phenotype-related ACtive Transcription) to predict functional impact of genome sequence variation.</p> <p><a href="https://github.com/immunogenomics/IMPACT">https://github.com/immunogenomics/IMPACT</a></p> <p>These annotations have been reformatted as <a href="http://www.htslib.org/doc/tabix.html">tabix</a>-indexed files for rapid queries, and are used by <strong>echolocatoR</strong> to perform <em>in silico</em> validation analyses. Data has been reprocessed to enable API access and querying of files using tabix.</p> <p><a href="https://github.com/RajLabMSSM/echolocatoR">https://github.com/RajLabMSSM/echolocatoR</a></p> <p>If you use these annotations, please cite the following:</p> <ul> <li> <p>Amariuta T, Luo Y, Gazal S, et al. <em>IMPACT: Genomic Annotation of Cell-State-Specific Regulatory Elements Inferred from the Epigenome of Bound Transcription Factors</em>. Am J Hum Genet. 2019;104(5):879-895. doi:10.1016/j.ajhg.2019.03.012</p> </li> <li> <p>Amariuta T, Ishigaki K, Sugishita H, et al. <em>Improving the trans-ancestry portability of polygenic risk scores by prioritizing variants in predicted cell-type-specific regulatory elements</em>. Nat Genet. 2020;52(12):1346-1354. doi:10.1038/s41588-020-00740-8</p> </li> <li> <p>Schilder BM, Humphrey J, Raj T. <em>echolocatoR: an automated end-to-end statistical and functional genomic fine-mapping pipeline</em>.&nbsp;Bioinformatics. 2021;btab658. doi:10.1093/bioinformatics/btab658</p> </li> <li> <p>Schilder, Brian. (2022). <em>IMPACT [Data set]</em>. Zenodo. https://doi.org/10.5281/zenodo.7062238</p> </li> </ul>