Bioinformatics (Oxford, England) · 2026
Aggregation of gene regulatory information and knowledge on FAIR principles enables discovery of pathogenic gene regulatory variants.
СтатьяПоддержка NIH: внешняя программаНазвание и аннотация: Перевод в очереди
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Yu Keyang, Zhao Haoquan, Wilderman Andrea S, Farris Tierra R, Arce Jessie E, Chen David, Jackson Andrew R, Guo Yiran, Li Qi, Jevtic Bosko, Jevtic Dubravka, Milinovic Vuk, Zhu Yuankun, Costanza Jeremy, Wenger Eric D, Nemarich Christopher, Anderson Lisa, Mihajlović Aleksandar, Ardlie Kristin, Morris Shaine A, Roth Matthew E, Taylor Deanne M, Resnick Adam C, Zhang Lilei, Milosavljevic Aleksandar
Аннотация
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.
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.