DNA sample being pipetted into petri dish with DNA gel in background

Our Services

The objective of the Molecular Phenotyping and Genotyping Core is to support Joslin and external investigators in the study of molecular mechanisms of disease by providing equipment, expertise, and services in molecular phenotyping, including nucleic acid sequence analyses, gene expression, and other "-omics" analyses, which would be too specialized or costly for individual laboratories to perform independently.

Formerly known as the Advanced Genomics and Genetics Core, the Molecular Phenotyping Core is newly named in recognition of the expansion of its analytical capacities to reflect not only genetic and genomic analyses, but also metabolic phenotyping.

Extraction of high-quality DNA from human specimens, including blood samples.

The Core repository currently includes about 6,000 DNA samples organized in eight panels, some of which include special forms of diabetes not available in other collections.

The Core provides a single nucleotide polymorphism (SNP) typing service based on the Applied Biosystems TaqMan SNP Genotyping Assays. Typically, these are SNPs that have been identified by genome-wide association studies (GWAS) or resequencing projects as being associated with diabetes or its complications, and for which replication is being sought in other studies.

The Core provides sizing, quantitation, and quality control services of DNA and RNA samples using the Agilent 2100 Bioanalyzer system. This is often used in preparation for high-throughput sequencing, or other expression analysis.

The Covaris E220 Ultrasonicator provides high-quality shearing of 1 to 96 gDNA samples in a single run.

The core offers full-service library prep and capture for custom designed or whole exome NGS projects, with multiplexing of to 96 samples per capture. The sequencing of prepared libraries is completed by forwarding samples to The Bauer Core Facility (https://bauercore.fas.harvard.edu/). Core personnel is available to assist in custom NGS array design

The Core houses two ABI 7900's (384 well) and one ABI 7000 (96-well).

The Core assists Joslin investigators using DNA repository panels in accessing the corresponding clinical data and exporting them in formats compatible with genetic analysis programs. Additionally, core personnel provides extensive informal assistance with experimental design, choice of array type or sequencing approaches, and troubleshooting for both array and PCR analysis hardware and software issues.

If any of your research has been supported in full or in part by a Joslin Diabetes Center DRC Core, please acknowledge the NIH/NIDDK grant as follows: "Supported by DRC, Grant No. P30 DK036836."

For services related to the Core’s Genetics component, please contact Christine Mendonca at Christine.Mendonca [at] joslin.harvard.edu

For services related to the Core’s Genomics component, please contact Christine Qiong Zhou at Qiong.Zhou [at] joslin.harvard.edu

Cortex Application Suite

You can get information on the process for ordering and pricing from Joslin's Cortex Application Services page.