Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing.

Ana I VegaCelia MedranoRosa NavarreteLourdes R DesviatBegoña MerineroPilar Rodríguez-PomboIsidro VitoriaMagdalena UgarteCelia Pérez-CerdáBelen Pérez

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2016)

These results show that next-generation sequencing, in combination with the detection of biochemical and clinical hallmarks, provides an accurate, high-throughput means of making genetic diagnoses of GSD and related diseases.Genet Med 18 10, 1037-1043.

Keyphrases

high throughput
single cell
copy number
high resolution
genome wide
depressive symptoms
gene expression
mass spectrometry
physical activity
dna methylation
quantum dots
sensitive detection
loop mediated isothermal amplification