www.well.ox.ac.uk - Platypus is a tool designed for efficient and accurate variant-detection in high-throughput sequencing data. By using local realignment of reads and local assembly it achieves both high sensitivity and high specificity. Platypus can detect...
github.com - Welcome to kevlar, software for predicting de novo genetic variants without mapping reads to a reference genome! kevlar's k-mer abundance based method calls single nucleotide variants (SNVs), multinucleotide variants (MNVs),...
github.com - Structural variant comparison tool for VCFs
Given benchmark and comparsion sets of SVs, calculate the recall, precision, and f-measure.
Spiral Genetics
Motivation
Ebola virus disease (EVD)or Ebola haemorrhagic fever is a severe and often deadly illness in humans, caused by the Ebola virus. The disease has high mortality rate, killing upto 90% of people who are infected.
www.lifetechnologies.com - "New technology that quickly, easily and economically reveals the genomes of viruses and pathogens transforms public health and medicine."
Source: Life technologies