The OGI Genomics Core facility was established in April of 2013 by the Massachusetts Eye and Ear Department of Ophthalmology and with support of an NEI P30 grant (EY014104), with the goal of offering advanced genomics analysis methods and techniques to MEE investigators and affiliates.

Our research interests in the Genomics core are focused on determining the genetic causality for patients with inherited blindness. The OGI developed a selective exon capture and next generation sequencing (NGS) approach for ocular disease genes (RetNeT, glaucoma, optic neuropathy, mitochondrial DNA) for genetic diagnostic testing of patients with inherited eye disorders, including inherited retinal degenerations, optic atrophy, and glaucoma (Consugar, 2015). Genetic Eye Disease, or GEDi, has been instrumental in identifying those patients that may benefit from sight-saving gene therapies. To further improve patient diagnoses, our goal is to develop and offer whole genome sequencing as a first-tier diagnostic test with methods to validate and interpret elusive noncoding variants.

As a CLIA-certified laboratory offering diagnostic testing to MEEI clinicians, we are able to provide the same quality services to researchers from specimen collection and accessioning through various NGS assays and bioinformatics analysis in collaboration with the MEEI Bioinformatics Center.

 

Services Include:

  • Nucleic Acid Isolation and Quantification
  • Biorepository services: DNA stored barcoded matrix tubes at -20C, and RNA/Plasma/Serum stored in -80C. All samples are accessioned and tracked with Progeny
  • Illumina short read sequencing (NovaSeq and MiSeq)
  • Library preparation from a wide range of sample types and qualities. Services are available on a sample-by-sample basis or through high-throughput protocols.
  • Quality assessment by real-time PCR, Varioskan, TapeStation and Qubit
  • Sanger sequencing and fragment analysis
  • Gene Expression Studies

Instrumentation available for use after training

For more information about our services, materials, and protocols, as well as other resources, please visit the Genomic Core Services page.

Meet the Genomics Core Lab Members