September 30, 2015 | Stephen Kingsmore and his colleagues at the Center for Pediatric Genomic Medicine at Children’s Mercy in Kansas City, announced 26-hour diagnostic whole genome sequencing in a paper published yesterday in Genomic Medicine, an improvement over the 50-hour whole genome sequencing the group published in 2012.
The paper is published just one day after Kingsmore took his new post as President and CEO of the Rady Pediatric Genomics and Systems Medicine Institute at Rady Children’s Hospital in San Diego.
The second generation STATseq pipeline comprises 18-hour whole genome sequencing on an Illumina HiSeq 2500 in rapid run mode; read mapping, alignment, and variant calling with the Edico DRAGEN pipeline; and a trio of softwares for analysis: VIKING, RUNES, and SSAGA.
The 26-hour clock runs from blood sample to provisional diagnosis. Of the four samples run with the new pipeline and published in the Genomic Medicine paper, the shortest total time was 26:08 and the longest two were 26:47.
Read more at Bio-IT World.