DrBubbleGun
Re:Ask HN: How to be my own genetic disease researcher for my partner?
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.
Re:Ask HN: How to be my own genetic disease researcher for my partner?
on Tuesday December 07, 2021 @10:36PM (#29481000)
Not OP. Last year, Dante Labs ran a deal around the Rare disease day (Feb 28). After submitting my documentation, I got 30x WGS for €260.