Low frequent variants in SINE regions?
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6.4 years ago
Tania ▴ 180

Hello everyone

If we have a low frequent variant (GT:GQ:DP:VF:GQX:PL:AD ==> 0/1:99:910:0.095:99:549,0,17114:824,86) (related to my previous post) and it is from DNA blood samples and I found the variant belongs in the SINE region.

We won't be surprised if the individual is found mosaic too. But should we discard variants in SINE regions? Could this low frequency in alt vs reference reads be due to repetition in SINE?

Thanks

Variants SINE-Region • 950 views
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Post referred to above is this: Interpretation for lowfrevariant

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