Variomes: a high recall search engine to support the curation of genomic variants

MOTIVATION: Identification and interpretation of clinically actionable variants is a critical bottleneck. Searching for evidence in the literature is mandatory according to ASCO/AMP/CAP practice guidelines; however, it is both labor-intensive and error-prone. We developed a system to perform triage...

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Detalles Bibliográficos
Autores principales: Pasche, Emilie, Mottaz, Anaïs, Caucheteur, Déborah, Gobeill, Julien, Michel, Pierre-André, Ruch, Patrick
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Original Papers
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9048643/
https://www.ncbi.nlm.nih.gov/pubmed/35274687
http://dx.doi.org/10.1093/bioinformatics/btac146

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9048643/
https://www.ncbi.nlm.nih.gov/pubmed/35274687
http://dx.doi.org/10.1093/bioinformatics/btac146

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