Genomics Core

Genomic technologies have broadly impacted vision science and have a critical role in most of the research programs carried out at Mass Eye and Ear. The Genomics core provides access to state-of-the-art genomic resources at low cost. 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 trouble-shooting)- 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. DNA and RNA sequence is frequently the critical data linking research discoveries with clinical phenotypes, and enabling and supporting these translational studies is a major goal of the Genomics core and this P30 overall. Indeed, many of the successes of the Genomics core are dependent on the identification of genes, genomic loci and RNA transcripts relevant to human disease. 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.

Services provided by the Genomics core:

  • Sanger sequencing
  • Whole exome sequencing
  • Selective exon capture and next generation sequencing (NGS) for ocular disease genes (RetNeT, glaucoma, optic neuropathy, mitochondrial DNA)
  • Genome-wide genotyping (both common and rare variation)
  • Copy number variation (CNV) using array CGH (comparative genomic hybridization), high-density genotypes and MLPA (multiplex ligation-dependent probe amplification)
  • RNA sequencing (RNA-seq) for transcriptome analyses


Eric A. Pierce (
Caitlin Finn (