Clinical Research of Complex Congenital Brain Malformations by Combined Neuroimaging and Massively Parallel Sequencing Using the TruSight One Sequencing Panel
06 Nov 2014

An ever-increasing number of causal mutations, as well as unclassified variants, are being reported in subjects with congenital brain malformations. For many of these genes only a few cases have been reported worldwide, providing limited information on the phenotypic spectrum and associated structural brain abnormalities. A method for rapidly obtaining reliable sequence information for a wide variety of genes involved in neuronal migration disorders, even in isolated cases, is critical to identifying the underlying genetic cause of these phenotypes. In this webinar, we present clinical research results for an isolated index case with developmental delay and a variant of classic lissencephaly, not explained by mutations in genes currently well-established. Research was performed through trio sequencing of the child and parents using the TruSight One Sequencing Panel combined with clinical evaluation of the available cerebral MR imaging. Results were achieved within 14 working days.

Illumina



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