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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2018
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| Materias: | |
| 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 |