Sync for Genes Phase 5: Computable artifacts for sharing dynamically annotated FHIR‐formatted genomic variants

INTRODUCTION: Variant annotation is a critical component in next‐generation sequencing, enabling a sequencing lab to comb through a sea of variants in order to hone in on those likely to be most significant, and providing clinicians with necessary context for decision‐making. But with the rapid evol...

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Detalles Bibliográficos
Autores principales: Dolin, Robert, Heale, Bret S. E., Gupta, Rohan, Alvarez, Carla, Aronson, Justin, Boxwala, Aziz, Gothi, Shaileshbhai R., Husami, Ammar, Shalaby, James, Babb, Lawrence, Wagner, Alex, Chamala, Srikar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Computable Knowledge Publications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10582236/
https://www.ncbi.nlm.nih.gov/pubmed/37860057
http://dx.doi.org/10.1002/lrh2.10385

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10582236/
https://www.ncbi.nlm.nih.gov/pubmed/37860057
http://dx.doi.org/10.1002/lrh2.10385

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