Setup an exome analysis pipeline
eltonlaw opened this issue · 0 comments
eltonlaw commented
Given some person's genome/sequencing reads
- Align: Use a reference genome to find out the location of each read in the genome
- Variant calling: Get differences between target genome and the reference genome
- Annotation: For each variant, search public data for its potential functional effects
- Filter: Filter annotations for most likely to be disease causing
- Prioritization: Supplement variant analysis with target's clinical history and family history.