Implementation of Big Data Processing Tools

Features:

  • Quality control checks on raw sequence data coming from high throughput sequencing pipelines
  • Mapping low-divergent sequences against a large reference genome, such as the human genome.
  • Manipulating high-throughput sequencing (HTS) data and formats such as SAM/BAM/CRAM and VCF.
  • Calling SNPs and indels simultaneously via local de-novo assembly of haplotypes in an active region
  • Utilizing update-to-date information to functionally annotate genetic variants detected from diverse genomes.
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