Clinical Sequencing for Long QT Syndrome

Whole-genome sequencing was able to get quickly to the bottom of a newborn's heart condition.

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Ten day! Wondering if the

Ten day! Wondering if the Stanford Team was aware of STAT-Seq, a whole genome sequencing service provided by Children's Mercy Hospital in Kansas City. I don't work for Children's Mercy but the team there, led by Stephen Kingsmore, has developed a method by which they could have sequenced this baby's genome in 50 hours.

Like many we have been

Like many we have been inspired by Stephen Kingsmore’s work. In fact, the sequencing pipeline we used here is the same rapid turnaround Illumina chemistry as described by Kingsmore. We plugged raw reads into a fast assembly and calling package built by Real Time Genomics combined with Stanford's clinical genome interpretation pipeline. So, the total time for one sequencing run followed by assembly and analysis is actually 207 hours or 8.6 days. Our intention was to describe the real time management for CLIA whole genome sequencing from blood draw to management plan.