eltonlaw/gooserocket

Setup an exome analysis pipeline

eltonlaw opened this issue · 0 comments

Given some person's genome/sequencing reads

  1. Align: Use a reference genome to find out the location of each read in the genome
  2. Variant calling: Get differences between target genome and the reference genome
  3. Annotation: For each variant, search public data for its potential functional effects
  4. Filter: Filter annotations for most likely to be disease causing
  5. Prioritization: Supplement variant analysis with target's clinical history and family history.