VCF-Miner: GUI-based application for mining variants and annotations stored in VCF files

@article{Hart2016VCFMinerGA,
  title={VCF-Miner: GUI-based application for mining variants and annotations stored in VCF files},
  author={Steven N. Hart and Patrick H. Duffy and Daniel J. Quest and Asif Hossain and Michael A. Meiners and Jean-Pierre A. Kocher},
  journal={Briefings in bioinformatics},
  year={2016},
  volume={17 2},
  pages={
          346-51
        }
}
Next-generation sequencing platforms are widely used to discover variants associated with disease. The processing of sequencing data involves read alignment, variant calling, variant annotation and variant filtering. The standard file format to hold variant calls is the variant call format (VCF) file. According to the format specifications, any arbitrary annotation can be added to the VCF file for downstream processing. However, most downstream analysis programs disregard annotations already… CONTINUE READING
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