Events - Illumina

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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At Illumina, our goal is to apply innovative technologies to the analysis of genetic variation and function, making studies possible that were not even imaginable just a few years ago. It is mission critical for us to deliver innovative, flexible, and scalable solutions to meet the needs of our customers. As a global company that places high value on collaborative interactions, rapid delivery of solutions, and providing the highest level of quality, we strive to meet this challenge. Illumina's innovative sequencing and array technologies are fueling groundbreaking advancements in life science research, translational and consumer genomics, and molecular diagnostics.