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Article

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

Nucleic acids research - 3 Jul 2017

Müller Heiko, Jimenez-Heredia Raul, Krolo Ana, Hirschmugl Tatjana, Dmytrus Jasmin, Boztug Kaan, Bock Christoph

Abstract excerpt

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 starts from lists of genetic variants in VCF format. Medical geneticists filter and annotate these lists to identify...

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PMID: 28520890
DOI: 10.1093/nar/gkx425
PMCID: PMC5570181

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