Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation

Design and interpretation of genome sequencing assays in clinical diagnostics and research labs is complicated by an inability to identify information from the medical literature and related databases quickly, comprehensively and reproducibly. This challenge is compounded by the complexity and heter...

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Detalles Bibliográficos
Autores principales: Chunn, Lauren M., Nefcy, Diane C., Scouten, Rachel W., Tarpey, Ryan P., Chauhan, Gurinder, Lim, Megan S., Elenitoba-Johnson, Kojo S. J., Schwartz, Steven A., Kiel, Mark J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7691534/
https://www.ncbi.nlm.nih.gov/pubmed/33281875
http://dx.doi.org/10.3389/fgene.2020.577152

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7691534/
https://www.ncbi.nlm.nih.gov/pubmed/33281875
http://dx.doi.org/10.3389/fgene.2020.577152

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