Question: Number of samples with rare mutation per gene in gnomAD
gravatar for Nicolas Rosewick
8 months ago by
Belgium, Brussels
Nicolas Rosewick8.7k wrote:


I would like to know if there is a way to know how many samples are mutated per gene in gnomAD. Let me explain : In gnomAD vcf you can see the variants an their associated allele frequency in the population. I already filter the vcf based on AF to only get rare mutation with a high VEP impact. Now I can count the number of rare high impact variants per gene. However is there a way to know how many samples per gene harbor these rare mutations ? For now I use a proxy by summing the number of variants with AC ( Allele count) >= 1 . Not the best proxy I guess but I cannot find other ideas as the individual SNP data are not available.

Any idea ?


gnomad mutation • 228 views
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