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Biobank Genomics Core

Personalized Medicine is home to the successful Biobank Genomics Core facility. Biobank Genomics Core provides services across several genomics technologies including high throughput next-generation sequencing (NGS), library construction for NGS, genotyping, and sample handling services.

close up a lab member pipetting samples into a tray


The Biobank Genomics Core offers comprehensive support for translational and clinical sequencing and genotyping projects.

Our primary expertise is genomic sequencing and genotyping, including Next-Generation Sequencing (NGS) based on Illumina NovaSeq platform and array-based genotyping on Illumina’s Infinium platform. We offer whole genome, whole exome, and RNA-seq as well as sequencing for other applications and DNA genotyping for GWAS and EWAS from a variety of specimen types, including blood, saliva, and tissue blocks.

  • Translational research in the clinical setting
  • NGS-based genetic tests
  • End-to-end workflows: from extraction through analysis 

Biobank Genomics Core services

Personalized Medicine Biobank Genomics Core provides service across several genomics technologies including high throughput NGS, library construction for NGS, genotyping, and methylation experiments.

The services at the Biobank Genomics Core are comprised of two core areas.

We have a long history of producing high-quality, dependable, and informative sequencing results for collaborators and clients. Our next-generation sequencing platforms and services include:

  • Illumina NovaSeq 6000 suitable for human whole genome sequencing, Exomes and Targeted capture panels, Whole transcriptomes, miRNA profiling, Metagenomics and Amplicon sequencing
  • Library Construction Services Automated, high throughput processing on PerkinElmer Sciclone workstations
    • Whole genome and whole exome
    • Whole transcriptome and miRNA-Seq
    • Custom target enrichment (amplicon based and hybrid capture)
    • Metagenomics
  • Ancillary sequencing and library construction services include QC by picogreen, tapestation, qPCR of incoming libraries, pooling and sequencing of premade libraries supplied by investigators

The Biobank Genomics Research Core provides flexible, high-quality, high-throughput SNP genotyping for collaborators and clients. Using state-of-the-art automation, our technologies enable throughputs in excess of five million SNP genotypes per day. Whether you are genotyping only one SNP or every SNP within the genome, or want to customize your assay, we have you covered. Our portfolio of genotyping services includes:

  • TaqMan genotyping on QuantStudio5 qPCR platform suitable for one to eight SNP targets
  • Illumina iSCAN platform which supports broad range of Illumina genotyping assays including the Infinium Global Diversity array and Global screening array and the Infinium HumanMethylation850 and Infinium Mouse Methylation array suitable epigenome-wide association studies

Other Infinium chips may be run. Please contact us for more information.

Note: Unless specifically stated to the contrary, Mass General Brigham Personalized Medicine is not affiliated with any vendors mentioned on this site.