Project Summary- Genomics Core Genomic technologies have broadly impacted vision science and have a critical role in many of the research programs carried out at Mass Eye and Ear. The Genomics core provides access to state-of- the-art genomic resources. Direct access to the Genomics core resources and expertise makes it possible for investigators to efficiently obtain high-quality data and eliminates the long queues for services such as next-generation sequencing frequently experienced at off-site centers. Importantly, the expert Genomics core personnel can help investigators plan appropriate experiments and assist with analyses (including troubleshooting)-services that would not be readily available elsewhere. The efficient timeline for data acquisition increases the overall productivity of the core investigators as well as improves the quality of the research. The Genomics core personnel are experts in the genetics and genomics of eye disease, creating opportunities for collaboration among investigators using this resource. Overall direct access to Genomics core personnel and resources greatly enhances the quality of the research and ultimate accomplishments of the core investigators. The Genomics core is directed by Dr. Eric Pierce, an expert in the genetics and genomics of inherited ocular disease. Services provided by the Genomics core includes: Sanger sequencing, whole exome sequencing, selective exon capture and next generation sequencing (NGS) for ocular disease genes (GEDi test), array genotyping, whole genome sequencing, copy number variation (CNV) and RNA sequencing (RNA-seq).