Ibtihal Elfaki

Feb 17, 2025 | nature.com | Laura Kellman |Suhas Srinivasan |Margaret Guo |Lisa Ko |Smarajit Mondal |Ibtihal Elfaki | +2 more

AbstractSingle-nucleotide variants (SNVs) in regulatory DNA are linked to inherited cancer risk. Massively parallel reporter assays of 4,041 SNVs linked to 13 neoplasms comprising >90% of human malignancies were performed in pertinent primary human cell types and then integrated with matching chromatin accessibility, DNA looping and expression quantitative trait loci data to nominate 380 potentially regulatory SNVs and their putative target genes.