HZHaoquan Zhao

Haoquan Zhao

*This is an algorithmically generated author record based on publicly available information.

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Haoquan Zhao has a total of 24 co-authors. Here are the top co-authors by number of shared publications:


Latest Publications

  • Open Access

    Aggregation of gene regulatory information and knowledge on FAIR principles enables discovery of pathogenic gene regulatory variants

    by Keyang Yu, Haoquan Zhao, Andrea S Wilderman, Tierra R Farris, Jessie E Arce, David Chen, Andrew R Jackson, Yiran Guo, Qi Li, Bosko Jevtic, et al.

    Motivation: Methods for sharing gene regulatory information and knowledge on FAIR principles, particularly in the context of tissue-specific gene regulation, remain poorly defined and implemented, hampering discovery and clinical genetic diagnosis. Results: We specified FAIR principles for tissue-specific gene regulatory information and knowledge; implemented them by developing a registry of regulatory elements and aggregating FAIR gene regulatory information from several major sources; developed computational tools that utilize these FAIR resources; and demonstrated their utility by associating gene regulatory variants with major subtypes of congenital heart disease. Availability and implementation: Variant prioritization infrastructure tools are available in genboree node repository at https://genboree.org/verdaccio/#/. Detailed documentation is available at https://ldh.clinicalgenome.org/docs/ldh/overview.html#related-services. The code for use case analyses and free access variant data is available on Zenodo with DOI: https://doi.org/10.5281/zenodo.17833070.