Comment by ahknight
5 days ago
I can vouch for Nebula. Just follow their recommendation to not get the 1x service if you want to use the data for medical reasons. The more passes they make, the more accurate the result.
Downside: those files are HUUUUUGE. Have a good reason to do it before pulling one down and trying to work with it.
Files are huge for sure (mine are like 25Gb x 3 of us) but Claude Science / Macbook Pro M5 Max knocked out my analyses in minutes using command line tools like bcftools and scripting. Honestly think this opens up WGS data to much easier analysis and refreshing those analyses in minutes as new discoveries are made.