CORE C: Neurogenomics (NGEN) Core

ABSTRACT The key function of the Neurogenomics Core (Core C, NGEN) is to insure access to state-of-the-art technologies for genetic research as applied to intellectual and developmental disabilities (IDDs). The availability of advanced genomics tools to gain insights into cellular processes is of major and increasing value in studies of these important conditions. There are significant challenges involved when a researcher wants to perform such assays for the first time, with challenges inherent to everything from project design through library preparation and data management and analysis. The NGEN Core is focused on providing priority services for IDDRC investigators and giving consultative services and training as needed. In the prior funding cycle the NGEN Core supported 15 NIH-funded researchers performing neurogenomics studies. The services used ranged from epigenomics to genomics through computational services. In collaboration with the ADM Core NGEN facilitates researchers getting preliminary data by making IDDRC Pilot Awards available on a competitive basis. We provide a robust computational environment for data management and analysis, and have activities that cut across the other cores of our IDDRC. The NGEN core is crafted from strong existing Einstein resources, exploiting an updated high performance computing facility as a novel component to the NGEN core. Genetic analyses are quickly evolving and the NGEN leadership seeks to maintain state-of-the- art services by continually broadening the repertoire of assays available to IDDRC investigators. For example the robust identification of human cell lines using short tandem repeat markers has been implemented to facilitate compliance with a new mandate from the NIH (Authentication of Key Biological and/or Chemical Resources), we are using the Fluidigm Biomark to offer single cell qRT-PCR for 96 genes in 96 cells, and we are one of the first cores to offer the Assay for Transposase-Accessible Chromatin (ATAC-seq). Since the last cycle Einstein has become an institutional founding member of the New York Genome Center (NYGC), providing an even greater reach of genetic analyses. Einstein is leading the development of epigenomics services at the NYGC, with an early priority being the offering of whole genome bisulphite sequencing on the Illumina X Ten platform, allowing this valuable assay to be performed cost effectively at nucleotide resolution genome-wide. We anticipate that we will develop our relationship with the NYGC progressively over the next cycle, bringing more advanced technologies and cost savings to the IDDRC. We anticipate a continued increase in the use of the NGEN core as the assays offered become more commonly used, growth that we are well equipped to handle in our scalable core facility.