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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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Detalles Bibliográficos
Autores principales: Müller, Heiko, Jimenez-Heredia, Raul, Krolo, Ana, Hirschmugl, Tatjana, Dmytrus, Jasmin, Boztug, Kaan, Bock, Christoph
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5570181/
https://www.ncbi.nlm.nih.gov/pubmed/28520890
http://dx.doi.org/10.1093/nar/gkx425