Expanding the genetic landscape of Congenital Disorders of Glycosylation using genomic techniques - RNA-Seq KU Leuven
Department of Human Genetics, Charles University (Univerzita Karlova)
Over the last ten years, significant strides have been made in the genetic diagnosis of rare diseases. This has been enabled by the development of next generation sequencing (NGS) technologies, able to provide a wider view of a patient’s genome and transcriptome, revealing rare disease-causing mutations. One of the categories of rare disease to benefit from these advances are Congenital Disorders of Glycosylation (CDG). Glycosylation is the ...