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

@inproceedings{Mller2017VCFFilterIP,
  title={VCF.Filter: interactive prioritization of disease-linked genetic variants from sequencing data},
  author={Heiko M{\"u}ller and Ra{\'u}l Jim{\'e}nez-Heredia and Ana Krolo and Tatjana Hirschmugl and Jasmin Dmytrus and Kaan Boztug and Christoph Bock},
  booktitle={Nucleic Acids Research},
  year={2017}
}
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 variants that may be relevant for the disease under investigation, or to select… CONTINUE READING
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