Exome sequencing for genetic diagnosis
Quite an interesting paper in which Illumina sequencing of whole exome DNA selected on Nimblegen arrays is used to find a gene and mutation responsible for a genetic disease. Apparently the first clinical application of whole exome sequencing!
Choi et al, PNAS 106, 19096-19101 (Nov. 10, 2009)
Good reading!
Choi et al, PNAS 106, 19096-19101 (Nov. 10, 2009)
Good reading!