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...

Täydet tiedot

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Bibliografiset tiedot
Julkaisussa:Genome Med
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BioMed Central 2015
Aiheet:
Software
Linkit: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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