What is it for?
For having used appropriate bioinformatics tools in predicting the position of genetic polymorphisms in draft or finished genomes from next-generation sequence data.
What skills does it represent?
This badge covers the running of alignment and variant calling software and assessment of its output in a critical fashion.
- Selecting and running appropriate tools such as BWA, Bowtie, NOVOalign or others to generate an alignment
- Selecting and running appropriate tools such as GATK, VarScan or samtools/vcftools or others to identify
- Selecting and applying appropriate statistical metrics of alignment success
- Selecting and applying appropriate cutoffs and quality metrics for variant calls by applying appropriate biological assessments and comparison with controls
Key Skill
The bearer is able to construct and run a variant calling pipeline and produce an informed assessment on the quality of the variants that are produced.