TY  - JOUR
T1  - Sequencing inches closer to the clinic: Neonatal, intellectual disorders identified
AU  - Kuehn BM
Y1  - 2012/11/21
N1  - 10.1001/jama.2012.14629
JO  - JAMA
SP  - 1961
EP  - 1962
VL  - 308
IS  - 19
N2  - 
Until recently, sequencing technologies were too slow and too expensive—and the results too complex—to be useful in many clinical settings, said Stephen F. Kingsmore, MB, ChB, BAO, DSc, director of the Center for Pediatric Genomic Medicine at Children's Mercy Hospital in Kansas City, Missouri. Now, however, advances in sequencing and new techniques to zero in on candidate genetic variants are making it feasible to use sequencing in the clinic. Kingsmore and colleagues recently described a technique that they say can help identify the genetic cause of disease in neonates with monogenic diseases in as little as 50 hours. Another group, from the Netherlands, has described how sequencing only the exome, the gene-encoding portions of the genome, has enabled them to identify the genetic cause of intellectual disabilities in some patients.

SN  - 0098-7484
M3  - doi: 10.1001/jama.2012.14629
UR  - http://dx.doi.org/10.1001/jama.2012.14629
ER  -