Core Services

Genomics and Bioinformatics Core

The Genomics and Bioinformatics Core (GBC) delivers cost-effective analytical genomics solutions and bioinformatics analyses for intellectual and developmental disabilities (IDD) researchers. The objective of the GBC is to maximize the potential for researchers to develop new insights, diagnostics and therapeutic interventions for individuals with IDD by removing obstacles for leveraging genomic methods.

The GBC has a dedicated staff led by internationally known investigators with an established track record in multidisciplinary research with a focus in genomics and bioinformatics. The genomics group of the Core provides equipment, expertise and training to support efficient utilization of genomics technologies. The bioinformatics group develops computational tools for omics data, designs best practices for utilizing large datasets and provides training in biomedical data sciences. Advances in genome sequencing technologies enable researchers to identify changes that relate to IDD.

The aims of the GBC are to provide access to, and training in, cutting edge techniques and technologies that can result in insights into the genetic basis of IDDs, to capture high resolution single cell level data of gene expression that contribute to development and dysregulation in IDDS and to maximize the impact of genomic information in understanding IDD by integrating genomic data with clinical, behavioral and pathophysical knowledge. In this way, the GBC will contribute to the understanding of the molecular physiology of IDDs and create new opportunities to develop diagnostics and therapeutic interventions. 


We maximize the potential for researchers to develop new insights, diagnostics and therapeutic interventions for individuals with IDD, with an emphasis on:

  • Understanding the genetic basis of IDDs through advanced methods that reveal structural variations and epigenomic modifications in DNA 
  • Utilizing a variety of methods – from automated, multiplexed protein analysis to single cell or spatially-resolved RNA analysis – to reveal changes in gene expression that contribute to development or developmental dysregulation
  • Maximizing the impact of genomics in our understanding of IDDs through integration of genomic information with clinical, behavioral and pathophysiologic data

Provided Services and Technologies

Consultation, experimental design, training, feasibility and cost analysis. Data analysis with standard or custom pipelines according to project specific requirements. 

Isolation, Quality Control, PCR, Standard Genotyping:

  • DNA Isolation, Standard Genotyping
  • RNA Isolation, Size/Tape Station Analysis, Qubit/Spectrophotometer
  • Digital Droplet PCR/RT-PCR
  • Pippin HMW DNA Analysis

Protein Analysis:

  • Bead ELISA (Millipore)
  • Automated Western Blot (Wes)
  • Single, Multiplex, U-Plex ELISA (MesoScale)


  • mRNA/miRNA Expression Profiling (Affymetrix)
  • EPIC Methylation Array (Illumina)

Sequencing (Illumina):

  • DNA: Microbiome (16S) and Metagenomics
  • DNA: Targeted and T Cell Receptor (Illumina or Adaptive Technologies)
  • DNA: Exome, Whole Genome-de novo, SNV, SV, CNV, Fusion Analysis
  • RNA: miRNA, Targeted, Bulk  PolyA, Bulk Whole Transcriptome/Depleted
  • RNA: Single Cell/Single Nuclei, Spatial (10X Genomics)

Specialized Technologies:

  • BioNano Optical DNA Mapping
  • Oxford Nanopore Technologies
  • NanoString nCounter miRNA/mRNA/Protein Digital Counting
  • Combined Analysis for Structural Variant Detection/Fusion Analysis

Available Equipment

Sequencing and Genomic Optical Mapping:

llumina Sequencers:

  • miSEQ,
  • NextSeq550
  • NovaSeq6000
  • Oxford Nanopore Technologies GridIon X5- Real time long read DNA/RNA Sequencer
  • 2 10x Genomics Single Cell Sequencing Controllers
  • 2 BioNano Zephyr Optical Mapping Scanners

Direct Digital Counting (miRNA. mRNA, protein) or Microarrays: 

  • NanoString Encounter GEN2 Digital Analyzer and automated prep station
  • Affymetrix, GS3000 7G Scanner with Autoloader, 450 Fluidics system, and workstation

Nucleic Acid Isolation, Sizing, Shearing and Assessment: 

  • Miltenyi Biotec gentleMACS Octo Dissociator with Heaters
  • Kurabo Quickgene 810 nucleic acid isolation station
  • Agilent 2100 Bioanalyzer and Tape Station
  • Qubit
  • Nanodrop 2000c Spectrophotometer
  • Blue Pippin-DNA Size selection system
  • Covaris S200 DNA Shearing System
  • Sage HLS HMW DNA Library system

Analysis of Proteins:

  • Luminex-Magpix for single plex or multiplex magnetic bead ELISA
  • Biorad ChemiDoc Imaging System
  • MSD Quickplex SQ120 for single or multiplex MSD High Sensitivity ELISA
  • BioTechne Protein Simple WES automated Western Blot system 


  • Quant Studio 7-PCR amplification system
  • Raindance ddPCR Source/Sense Stations for digital droplet PCR