Identification of rare disease-causing variants using next-generation sequencing

Identification of rare disease-causing variants using next-generation sequencing

Topic: Human Genetics & Genetic Disease : Customer

Activating mutations in the GNAQ gene can lead to Sturge-Weber Syndrome, a rare disease affecting 1 in 20,000 people. Mutations in this same gene can also cause port-wine stain birthmarks affecting 1 in 333 individuals. In this presentation, Dr. Jonathan Pevsner of Kennedy Krieger Institute will describe his lab's research using whole-genome and targeted resequencing to identify causative variants of these somatic mosaic conditions. The presentation will also discuss the use of Illumina's TruSight Autism content set for the detection of variants associated with Autism Spectrum Disorder. 



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