Development and user evaluation of a rare disease gene prioritization workflow based on cognitive ergonomics

OBJECTIVE: The clinical diagnosis of genetic disorders is undergoing transformation, driven by whole exome sequencing and whole genome sequencing (WES/WGS). However, such nucleotide-level resolution technologies create an interpretive challenge. Prior literature suggests that clinicians may employ c...

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Detalles Bibliográficos
Autores principales: Lee, Jessica J Y, van Karnebeek, Clara D M, Wasserman, Wyeth W
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2018
Materias:
Research and Applications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6339516/
https://www.ncbi.nlm.nih.gov/pubmed/30535356
http://dx.doi.org/10.1093/jamia/ocy153

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6339516/
https://www.ncbi.nlm.nih.gov/pubmed/30535356
http://dx.doi.org/10.1093/jamia/ocy153

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