# Molecular Phenotyping and Genotyping Core

> **NIH NIH P30** · JOSLIN DIABETES CENTER · 2021 · $256,302

## Abstract

CORE 6 - MOLECULAR PHENOTYPING AND GENOTYPING : ABSTRACT
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. The new Core will continue to provide the services previously
offered, including: 1. DNA extraction from blood; 2. Curation of and maintenance of access to DNA collections
from the Core's repository; 3. SNP genotyping; 4. Bioanalyzer analysis of DNA/RNA quality and quantity; 5.
DNA shearing; 6. Preparation of next-generation sequencing libraries; 7. Facilitated access to external next-
generation sequencing facilities; 8. Gene expression using microarrays (Affymetrix), including cRNA/cDNA
preparation and hybridization; 9. Access to real-time quantitative PCR; 10. Assistance with study design and
data analysis in collaboration with the Boston University-Joslin Regional Computational (BUJRC) Core;11.
Educational services to facilitate the understanding and the use of next-gen and other -omics methodologies
by the Joslin community. New services to enhance capacity for the study of molecular mechanisms of disease
will include: 1. Genetic characterization for clinical studies (a next-gen sequencing assay developed by the
core to simultaneously screen all known monogenic diabetes genes for mutations and to type all known SNPs
associated with T1DM, T2DM, or diabetic complications) 2. Bioenergetics and metabolic phenotyping
(analysis of metabolic flux using the Seahorse XF24 and XF96 instruments and facilitated access to
metabolomics platforms). 3. Plasma proteomics (facilitated access to the Somalogic proteomic platform at
BIDMC). 4. Digital genomics (through a new digital PCR platform that is being purchased by the Joslin for the
digital detection of RNA, DNA, and noncoding RNA species). Training will be an important component of
introduction of these services, so as to promote utilization of these approaches by investigators and trainees
alike. Together, these new initiatives will facilitate the ongoing transition of Joslin investigators to state-of-the
art phenotyping and genotyping that that are instrumental for both basic, translational, and clinical research
studies.

## Key facts

- **NIH application ID:** 10160881
- **Project number:** 5P30DK036836-35
- **Recipient organization:** JOSLIN DIABETES CENTER
- **Principal Investigator:** Mary E Patti
- **Activity code:** P30 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $256,302
- **Award type:** 5
- **Project period:** 1997-02-15 → 2022-03-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10160881

## Citation

> US National Institutes of Health, RePORTER application 10160881, Molecular Phenotyping and Genotyping Core (5P30DK036836-35). Retrieved via AI Analytics 2026-06-02 from https://api.ai-analytics.org/grant/nih/10160881. Licensed CC0.

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