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VCF.Filter: interactive prioritization of disease-linked genetic variants from sequencing data

Next generation sequencing is widely used to link genetic variants to diseases, and it has massively accelerated the diagnosis and characterization of rare genetic diseases. After initial bioinformatic data processing, the interactive analysis of genome, exome, and panel sequencing data typically st...

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Podrobná bibliografie
Vydáno v:Nucleic Acids Res
Hlavní autoři: Müller, Heiko, Jimenez-Heredia, Raul, Krolo, Ana, Hirschmugl, Tatjana, Dmytrus, Jasmin, Boztug, Kaan, Bock, Christoph
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2017
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5570181/
https://ncbi.nlm.nih.gov/pubmed/28520890
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkx425
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