# An integrated and diverse genomic medicine program for undiagnosed diseases

> **NIH NIH U01** · DUKE UNIVERSITY · 2021 · $149,897

## Abstract

Abstract
The full breadth of the clinical sites research based genomic analyses is resource intensive,
requiring bioinformatics personnel and more expensively, a laboratory with computing
infrastructure and storage capabilities. With the funding of the clinical sites of the UDN
beyond 2022 being uncertain, exploring cost-efficient and at the same time effective
strategies for genome analyses at the clinical sites is crucial to maintaining the scientific
edge of the network.
Our proposed project will evaluate an alternative pipeline for effectiveness and efficiency in
the analysis of exome and genome sequencing data at the Duke/Columbia clinical site. We
will customize a commercial platform to conform closely to our research pipeline. We will run
this pipeline simultaneous to the sequencing core analyses and evaluate the relative
effectiveness of this new analysis structure in determining pathogenic and likely pathogenic
variants and novel candidate gene variants. If effective, such a paradigm might provide a
less resource heavy approach to analyzing genomic data at the clinical sites.
We believe that this pilot project will provide a paradigm for analyses of genomic data at the
UDN clinical sites while maintaining most of the scientific rigor that has contributed to the
diagnostic capabilities of the network and may offer a path forward for sustainability.

## Key facts

- **NIH application ID:** 10376398
- **Project number:** 3U01HG007672-08S1
- **Recipient organization:** DUKE UNIVERSITY
- **Principal Investigator:** VANDANA SHASHI
- **Activity code:** U01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $149,897
- **Award type:** 3
- **Project period:** 2014-07-01 → 2022-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10376398

## Citation

> US National Institutes of Health, RePORTER application 10376398, An integrated and diverse genomic medicine program for undiagnosed diseases (3U01HG007672-08S1). Retrieved via AI Analytics 2026-05-26 from https://api.ai-analytics.org/grant/nih/10376398. Licensed CC0.

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