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Genotyping and Genetics for Population Sciences Core (DF/HCC)

Director: De Vivo, Immaculata, M.P.H., Ph.D.

Location: Harvard T.H. Chan School of Public Health, 665 Huntington Ave., Bldg 2. Room 255, Boston MA 02115


The mission of the Genotyping and Genetics for Population Sciences Core is to provide services to investigators conducting molecular analyses of somatic DNA collected as part of a wide range of investigations. This Core provides high-throughput assays of specific gene mutations and polymorphisms (SNPs) in the many situations where previously defined specific nucleotide alterations are of interest.





  • ABI PRISM 7900HT sequence detection system ( Real-time PCR machine )

    Used to perform the ABI Prism Taqman Allelic Discrimination Assay.

  • Ion Torrent PGM ( Next generation sequencer )

    Targeted sequencing service using the Ion Torrent PGM.

    The capabilities of this service include:
    Custom Amplicon Sequencing of DNA and RNA Panels
    Ready-to-use Ion AmpliSeq Panels

  • Life Technologies Quant 6 Real-Time PCR Machine ( Real-time PCR machine )

  • Life Technologies Quant Studio 12-K Open Array Scanner ( Array scanner )

  • OpenArray ( Genotype analysis platform )

    The OpenArray SNP Genotyping Platform allows researchers to run 16, 32 or 64 TaqMan assays on one OpenArray chip.
    The OpenArray chips require only 33nl of assay allowing for significant cost savings.

  • Perkin Elmer Janus liquid Handler ( Liquid handler )

  • Qiagen QIAcube ( DNA extraction/purification instrument )

    "The QIAcube enables you to continue to use well-established QIAGEN spin-column kits and eliminates the need for tedious manual steps. The innovative QIAcube controls integrated components including a centrifuge, heated shaker, pipetting system, and robotic gripper. This enables the QIAcube to fully automate more than 40 QIAGEN spin-column kits using a simple lyse, bind, wash, elute procedure."

  • Qiagen QIAgility ( Sample preparation system )

    "The QIAgility is a compact benchtop instrument that enables rapid, high-precision PCR setup. The unmatched versatility of the QIAgility means that almost all tube and plate formats are supported as well as Rotor-Discs for the Rotor-Gene Q."


  • Ion Torrent Targeted Sequencing ( Analysis service )

    The capabilities of this service include:
    Custom Amplicon Sequencing of DNA and RNA Panels
    Ready-to-use Ion AmpliSeq Panels:

    Cancer Hotspot Panel – 50 genes, > 2,800 Cosmic Mutations, 207 Amplicons
    Comprehensive Cancer Panel – 409 genes, 16,000 Amplicons
    Inherited Disease Panel – 700 disease, 328 genes, 10,000 Amplicons

    The system requires only 10ng of input DNA and DNA from FFPE samples can also be used. Additionally, only one or two samples can be run at a time.

  • SNP Analysis using OpenArray Genotyping ( Material analysis service )

    The Taqman OpenArray platform allows users to run 16, 32 or 64 SNPs in parallel using Taqman reagents.

    The per genotype cost varies with the number of samples and the number of SNPs. Please contact Hardeep Ranu for exact pricing information.

  • SNP Analysis using Taqman ( Material analysis service )

    SNP Analysis using ABI Prism Taqman Allelic Discrimination Assay
    Single SNP allelic discrimination is carried out using the ABI 7900, which allows single-plex SNP interrogation over a large volume of samples.

  • Telomere Length Analysis ( Analysis service )

    Relative telomere length

  • Whole genome amplification service ( Material processing service )

    DNA and RNA extraction from blood, saliva, tissue, and FFPE plating, and whole genome amplification.

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Last updated: 2017-05-09T14:01:30.008-04:00

Copyright © 2016 by the President and Fellows of Harvard College
The eagle-i Consortium is supported by NIH Grant #5U24RR029825-02 / Copyright 2016