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Core Facilities

High-Throughput Polymorphism Detection

High-Throughput Polymorphism Detection Core

The mission of the High-Throughput Polymorphism Detection 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.

Taqman

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.

Taqman Submission Guidelines

Sequenom

SNP analysis using Mass Spectrometry
SNP genotyping by MALDI-TOF mass spectrometry is performed using the Sequenom mass spectrometry system. Multiplexing permits determination of up to 12 SNPs in a single well of a 384 well plate.

Sequenom Submission Guidelines

To use the Sequenom SNP Genotyping service, we require that you register at our secure site to submit DNA samples and SNP flanking sequence.

Once you have registered and have had your application approved you can then go on to submit SNP flank sequence for assay design and DNA sample sheet information.

Leadership and Staff

Core Co-Director: David Kwiatkowski, MD
Content Contributor: Hardeep Ranu