Question: How to convert intronic variants with IVS nomenclatures to their respective nucleotide positions?
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gravatar for bioinfo89
14 months ago by
bioinfo8940
bioinfo8940 wrote:

I have few intronic novel variants for which I want to extract the genomic positions using Mutalyzer. However, since the variants are nomenclatured as IVS20-68insA, a format not compatible with Mutalyzer. Therefore, is there any direct way to convert the IVS nomenclature to genomic positions or other way to convert them to their nucleotide position in the intron?

Any help would be appreciated.

snp genome • 459 views
ADD COMMENTlink modified 12 months ago by Biostar ♦♦ 20 • written 14 months ago by bioinfo8940

It's a little challenging to do it automatically. I'd either use HGMD or use R with exon co-ordinates from a Locus Reference Genomic for each gene.

ADD REPLYlink written 12 months ago by RamRS20k
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