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7.5 years ago
ash
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10
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.
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.