October 7, 2012

Sequencing Full Genome of Infant’s in 50 Hours

Sequencing full genome of infant’s in 50 hours.
Work at Children’s Mercy Hospital’s Pediatric Genomic Center (via SingularityHub
Speed of diagnosis is most critical in acute care situations, as in a neonatal intensive care unit (NICU), where medical decision-making is made in hours not weeks. Using STAT-Seq, with consent from parents, the investigators diagnosed acutely ill infants from the hospital's NICU. By casting a broad net over the entire set of about 3,500 genetic diseases, STATSeq demonstrates for the first time the potential for genome sequencing to influence therapeutic decisions in the immediate needs of NICU patients.

STAT-Seq®, a whole genome sequencing approach - from blood sample to returning results to a physician - in about 50 hours.

Genetic diseases affect about three percent of children and account for 15 percent of childhood hospitalizations. Treatments are currently available for more than 500 genetic diseases.

The sequencer used, Illumina HiSeq 2500.

Tags: infant full genome sequencing, newborn full genome sequencing, baby’s full genome sequencing, 50 hour genome sequencing