ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories

Routine clinical application of whole exome sequencing remains challenging due to difficulties in variant interpretation, large dataset management, and workflow integration. We describe a tool named ClinLabGeneticist to implement a workflow in clinical laboratories for management of variant assessme...

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Detalles Bibliográficos
Autores principales: Wang, Jinlian, Liao, Jun, Zhang, Jinglan, Cheng, Wei-Yi, Hakenberg, Jörg, Ma, Meng, Webb, Bryn D., Ramasamudram-chakravarthi, Rajasekar, Karger, Lisa, Mehta, Lakshmi, Kornreich, Ruth, Diaz, George A., Li, Shuyu, Edelmann, Lisa, Chen, Rong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Software
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4558641/
https://www.ncbi.nlm.nih.gov/pubmed/26338694
http://dx.doi.org/10.1186/s13073-015-0207-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4558641/
https://www.ncbi.nlm.nih.gov/pubmed/26338694
http://dx.doi.org/10.1186/s13073-015-0207-6

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