Meaning of allele frequency
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4 months ago
peter ▴ 10

I am reading an article:

article

In this article, authors mention and I quote 'pathogenic variants with allele frequencies greater than 0.01% were well characterized in publications and included many founder mutations.'

I want to make if I understand allele frequency correct. Does allele frequency greater than 0.01% means variants for whom the alternative allele count is greater than 1 so that 0.01 * 100 and if we have an allele frequency of 0.1% then that refers to alternative allele count as 10. Is this interpretation correct? Insights will be appreciated.

snp allele frequency • 358 views
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If you have an autosomal gene, 0.01% means one allele per 10000 is affected. 1 alternative allele per 5000 persons. 1 person with heterozygous variant per 5000 or 1 person out of 10000 with a homozygous variant.

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Thank you. It makes sense now.

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