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How to read gene variants

Hi,

I see a variant in a document written like this "A > A/AG", but what does it mean? It's a human genome so does it mean one allele is not changed, but the other allele is changed to G?

Thank you.

ngs variant variantcall miseq
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written by maricom • maricom

1 answer

Hello and good morning from Zimbabwe,

More likely to mean that one allele has an insertion of G.

  • Allele 1: A
  • Allele 2: AG

The slash indicates that this is an un-phased call.

However, for certainty, please quote the source.

Kevin

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written by Kevin Blighe Kevin Blighe

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