? RESOURCE INFORMATICS The goal of RegulomeDB is the development and implementation of a comprehensive resource to explore the gene regulation at the nucleotide level. We will provide visualization tools that interconnect multiple datatypes. We will allow search of variants using a variety of file formats and allow batch submission for queries. We will adopt modern, efficient and open source technologies, software frameworks, massively parallel search methods, annotation-based data schema, API and web services. By becoming fully deployed from the Amazon Cloud we will provide all data via a data commons style tool box. Maintain the highest quality control, including auditing and validation with automatic testing of software and content.
TO PUBLIC HEALTH, PROJECT NARRATIVE The regulation of gene expression controls the determination of cell types, and aberrant gene expression can cause diseases such as cancer. RegulomeDB will enable researchers, clinicians, and sophisticated computer programs to relate DNA variants that lie in previously poorly understood regions of the human genome to possible functions thereby helping us understand the genetic basis of human variation and disease.
| Nielsen, Jonas B; Fritsche, Lars G; Zhou, Wei et al. (2018) Genome-wide Study of Atrial Fibrillation Identifies Seven Risk Loci and Highlights Biological Pathways and Regulatory Elements Involved in Cardiac Development. Am J Hum Genet 102:103-115 |
| Nishizaki, Sierra S; Boyle, Alan P (2017) Mining the Unknown: Assigning Function to Noncoding Single Nucleotide Polymorphisms. Trends Genet 33:34-45 |
| Yang, Bo; Zhou, Wei; Jiao, Jiao et al. (2017) Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve. Nat Commun 8:15481 |
