Re:Ask HN: How to be my own genetic disease researcher for m...
by DrBubbleGun on Wednesday December 08, 2021 @02:25PM
(#29489173)
OP, besides other good recommendations in the thread, you can give Moon [https://www.diploid.com/moon] a shot. In my WGS, it found an SNP with allele frequency of 0.00089 that is designated as "probably_damaging" and "deleterious" in gnomAD.
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