Could You Explain Allele Specific Snp Mean?
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10.8 years ago
Deniz ▴ 210

for example

my Ref : C

my Alt : T for an diploid individual. So here there is SNP. What does it mean allele specific?

or tissue specific allele? How can measure Snp base counts between individual samples? I think I know what they mean. Just I am not familiar with this terms.

Thanks for help

allele snp • 4.8k views
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10.8 years ago

Allele-specific refers to the expression of the variant. Having DNA sequencing results will tell you nothing about the expression of a variant. Sequence-level gene expression would help to define a heterozygous variant that is relatively more or less expressed than the WT variant. A locus that shows strongly skewed expression is said to be showing allele-specific expression. The comment above from RM gives a couple of useful links.

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I agree with Sean: I have not heard of "allele specific SNP", either.

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