Wisconsin Team Makes Definitive Diagnosis Using 454 Sequencing

December 20, 2010

December 20, 2010 | Doctors at the Medical College in Wisconsin have published in the journal Genetics and Medicine the results of exome sequencing in a seriously ill boy with undiagnosed bowel disease. The study (using 454 sequencing) revealed mutations in a gene called XIAP, which interestingly was not previously considered among more than 2,000 candidate genes before the DNA sequencing was performed. The prognosis for the child is cautiously optimistic after a cord blood transplant. JS Online