from Hacker News

How accurate is genome sequencing?

by NiceWayToDoIT on 12/6/21, 4:45 AM with 1 comments

If I take for instance, my blood and give it to two or three different companies to sequence my entire genome, will results of multiple companies match to the letter? Similarly if I repeat sequencing will the one I take today and the one in month after, be the same?

If not, how much is the discrepancy?

  • by nextos on 12/6/21, 5:16 AM

    If you get your genome processed into a VCF file, each variant will be listed together with sort of a posterior probability. The discrepancy will be proportional to how stringent your filter is, as variant calling methods are well calibrated. There's a lot of literature on this.