# Clinical Sequencing Core Facility for the Undiagnosed Diseases Network (UDN)

> **NIH NIH U01** · BAYLOR COLLEGE OF MEDICINE · 2020 · $1,426,500

## Abstract

Project Summary/Abstract
The objectives of this project are to support the goals of the Undiagnosed Diseases Network (UDN) by
continuing our work during Phase I as the sequencing core facility to provide exome and genome sequencing
for the network. The extramural opportunity “Clinical Sites for an Undiagnosed Diseases Network” created a
consortium of institutions that built common protocols to improve patient access to state-of-the-art diagnostic
methods, and to promote discovery and innovation in diagnosing and treating patients. Important to this
coordinated effort is the use of common diagnostic modalities such that data can be readily shared among
the sites. Therefore, the continued funding of a sequencing core facility that will provide state-of-the-art
exome and genome sequencing for the network has been proposed.
Baylor College of Medicine and the Baylor Genetics laboratory was selected as one of two sequencing cores
for the UDN Phase I project performing whole exome sequencing for approximately 50% of the UDN
participants. Baylor Genetics is a CAP and CLIA certified laboratory that developed whole exome
sequencing as a clinical test in October 2011. Baylor Genetics has sequenced, analyzed, and provided final
clinical reports of exome sequencing for over 11,000 patients with approximately 30-40% of cases receiving
a molecular diagnosis. Our molecular clinical interpretation service comprises 16 ABMGG certified clinical
molecular geneticists and four certified genetic counselors. To date, during UDN Phase I, the Baylor core
performed exome sequencing for 256 probands and their family members for a total of 757 exomes. Whole
exome sequencing comprised approximately 36% of the diagnoses made during UDN Phase I for patients
and family members
In response to the directives of the RFA, we will perform exome sequencing for probands and family
members (3.5 individuals per proband) and deliver raw sequence reads and quality control metrics to the
network within a two-week period followed by a clinical report. In addition, the Baylor core is now able to
offer whole genome sequencing, analysis and clinical reporting in our CAP and CLIA certified laboratory,
also with deposition of raw sequence reads within 2 weeks. In addition, we propose the option of RNASeq
on a research basis for individuals with a non-diagnostic exome or genome analysis. These sequencing
options can be weighed by the Steering Committee to provide the most efficient and cost-effective pathway
to a molecular diagnosis for patients enrolled in this program.

## Key facts

- **NIH application ID:** 9955341
- **Project number:** 5U01HG007942-07
- **Recipient organization:** BAYLOR COLLEGE OF MEDICINE
- **Principal Investigator:** Christine Eng
- **Activity code:** U01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $1,426,500
- **Award type:** 5
- **Project period:** 2014-09-22 → 2022-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9955341

## Citation

> US National Institutes of Health, RePORTER application 9955341, Clinical Sequencing Core Facility for the Undiagnosed Diseases Network (UDN) (5U01HG007942-07). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/9955341. Licensed CC0.

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