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

Abstract excerpt

Non-coding variants have emerged as important contributors to the pathogenesis of human diseases, not only as common susceptibility alleles but also as rare high-impact variants. 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 framewor...

Topics

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• Gene Regulatory Networks
• Genetic Variation
• Genome, Human
• Genome-Wide Association Study
• Genomics
• High-Throughput Nucleotide Sequencing
• Neural Networks, Computer
• Polymorphism, Single Nucleotide

Identifiers and source

Literature Corpus work

029c3c17-2d70-50f3-bb4c-acb6b08d2f18

DOI

10.1101/2020.09.17.301960