Co-localization between Sequence Constraint and Epigenomic Information Improves Interpretation of Whole-Genome Sequencing Data

We describe here a co-localization approach that aims to identify constrained sequences that co-localize with tissue- or cell-type-specific regulatory regions, and we show that the resulting score is particularly well suited for the identification of rare regulatory variants. For 127 tissues and cell types in the ENCODE/Roadmap Epigenomics Project, we provide catalogs of putative tissue- or cell-type-specific regulatory regions under sequence constraint.

Source: The American Journal of Human Genetics - April 1, 2020 Category: Genetics & Stem Cells Authors: Danqing Xu, Chen Wang, Krzysztof Kiryluk, Joseph D. Buxbaum, Iuliana Ionita-Laza Tags: Article Source Type: research