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

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

Topic: Reproductive & Genetic Health

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.



Advances in Genome Biology and Technology (AGBT) Annual Meeting 2019
Marco Island, FL | North America
Topic: Agriculture Genomics : Cancer Genomics : Forensic Genomics : Reproductive & Genetic Health : Human Genetics & Genetic Disease : Microbiology & Infectious Disease : HLA Typing
Association of Biomolecular Resource Facilities (ABRF) Annual Meeting 2019
San Antonio, TX | North America
Topic: Agriculture Genomics : Cancer Genomics : Forensic Genomics : Reproductive & Genetic Health : Human Genetics & Genetic Disease : Microbiology & Infectious Disease : HLA Typing
BioITWorld 2019
Boston, MA | North America
Topic: Agriculture Genomics : Cancer Genomics : Forensic Genomics : Reproductive & Genetic Health : Human Genetics & Genetic Disease : Microbiology & Infectious Disease : HLA Typing