I confess I live on the academic research side, not the consumer medicine side, but the obvious solution to me is “go get a long-read genome so you can phase your mutations.” Is that an option? The relevant technology keyword is “PacBio”, or given that you already have a short-read assembly, “Nanopore”.
I confess I live on the academic research side, not the consumer medicine side, but the obvious solution to me is “go get a long-read genome so you can phase your mutations.” Is that an option? The relevant technology keyword is “PacBio”, or given that you already have a short-read assembly, “Nanopore”.
Indeed, that will be the next step if and when I decide to invest more effort into nailing this down.