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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Detalhes bibliográficos
Publicado no:Genome Med
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Software
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4558641/
https://ncbi.nlm.nih.gov/pubmed/26338694
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-015-0207-6
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