GREEN-DB: a framework for the annotation and prioritization of non-coding regulatory variants from whole-genome sequencing data.

ABSTRACT: Non-coding variants have long been recognized as important contributors to common disease risks, but with the expansion of clinical whole genome sequencing, examples of rare, high-impact non-coding variants are also accumulating. Despite recent advances in the study of regulatory elements and the availability of specialized data collections, the systematic annotation of non-coding variants from genome sequencing remains challenging. Here, we propose a new framework for the prioritization of non-coding regulatory variants that integrates information about regulatory regions with prediction scores and HPO-based prioritization. Firstly, we created a comprehensive collection of annotations for regulatory regions including a database of 2.4 million regulatory elements (GREEN-DB) annotated with

SUBMITTER: Giacopuzzi E 

PROVIDER: S-EPMC8934622 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature