Cargando…
Dynamic software design for clinical exome and genome analyses: insights from bioinformaticians, clinical geneticists, and genetic counselors
Background The transition of whole-exome and whole-genome sequencing (WES/WGS) from the research setting to routine clinical practice remains challenging. Objectives With almost no previous research specifically assessing interface designs and functionalities of WES and WGS software tools, the autho...
Autores principales: | Shyr, Casper, Kushniruk, Andre, van Karnebeek, Clara D.M., Wasserman, Wyeth W. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2016
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4784553/ https://www.ncbi.nlm.nih.gov/pubmed/26117142 http://dx.doi.org/10.1093/jamia/ocv053 |
Ejemplares similares
-
MOLGENIS research: advanced bioinformatics data software for non-bioinformaticians
por: van der Velde, K Joeri, et al.
Publicado: (2019) -
FLAGS, frequently mutated genes in public exomes
por: Shyr, Casper, et al.
Publicado: (2014) -
Correction to: FLAGS, frequently mutated genes in public exomes
por: Shyr, Casper, et al.
Publicado: (2017) -
Development and user evaluation of a rare disease gene prioritization workflow based on cognitive ergonomics
por: Lee, Jessica J Y, et al.
Publicado: (2018) -
A novel approach in pediatric telegenetic services: geneticist, pediatrician and genetic counselor team
por: Kubendran, Shobana, et al.
Publicado: (2017)