HGMD Dataset (Reference allele and alternate allele)
I am a data analyst and I am new to bioinformatics! I have to analyse the HGMD data. I am having various colums in my dataset. But I am trying to understand in particular the difference between reference allele and alternate allele columns. What does it actually explain. It would be really helpful if you make me understand.
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Reference allele is the allele from the reference genome, i.e. human or mouse. Alternate allele is the non-reference allele or the affect allele, i.e. mutation/indels for the sample/population relative to the reference genome.