Is there a resource on how to create variant annotator from scratch?

Question

[magnolia]

Hi,

I would like to know the details about how variant annotation tools (e.g. VEP, Annovar etc.) work and would like to experiment to create my own. Is there a resource (paper, textbook, tutorial, anything) to learn about this?

Thank you!

Answer 1

[Pierre Lindenbaum]

Is there a resource (paper, textbook, tutorial, anything) to learn about this?

https://en.wikipedia.org/wiki/Translation_(biology)

https://github.com/samtools/bcftools/blob/develop/csq.c

https://github.com/pcingola/SnpEff/blob/master/src/main/java/org/snpeff/snpEffect/SnpEffectPredictor.java

https://github.com/lindenb/jvarkit/blob/master/src/main/java/com/github/lindenb/jvarkit/tools/vcfannot/VCFPredictions.java

(...)

[magnolia]

Thank you so much!