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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2023
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Materias: | |
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 |
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