Word of warning. Take promethease with a grain of salt. For example, promethease predicted a deletion in my genome (didn't actually observe a call, just inferr

Word of warning. Take promethease with a grain of salt. For example, promethease predicted a deletion in my genome (didn't actually observe a call, just inferred the deletion from linked sites) for a highly pathogenic disease in my data. However upon further inspection of the loci (I've done deep deep sequencing of my genome) it was a false positive. Promethease is very very useful, but it shows you all the data including some of the more hairy sites. It is a great starting place but if you find a deleterious variant that may impact your health, follow up with your health care provider.