# Pilot of New Technologies to Increase the Genomic Diagnosis of Undiagnosed Disease Network (UDN) Patients

> **NIH NIH U01** · BAYLOR COLLEGE OF MEDICINE · 2021 · $149,922

## Abstract

Abstract:
Despite the diagnostic successes of the UDN program, a significant number of patients remain
genetically undiagnosed after exome sequencing, genome sequencing, and transcriptome analyses. We
hypothesize that longer-range data from complementary sequence analysis platforms will enhance diagnostic
yield in the UDN by identifying structural variants with phasing that remain undetected using traditional short-
read sequencing platforms. We propose that longer-range sequencing technologies, such as Hi-C Whole
Genome Sequencing (WGS) and long-read RNAseq, will facilitate the allele-specific characterization of
variants (single nucleotide, indel, and structural variants), allow transcript isoform analysis in addition to
phasing of cis vs. trans variants, provide information about epigenetic and nucleomic features such as
domains, loops and compartments, that will enable additional integrated analysis of all forms of noncoding
variants to improve the diagnostic yield. To do this we will pilot two additional data types for UDN patient
assessment: Hi-C WGS, and long-read RNAseq. This will complement established technologies in the UDN
including short-read WGS and short-RNAseq, as well as add to our current investigations on long-read WGS.

## Key facts

- **NIH application ID:** 10377756
- **Project number:** 3U01HG007709-08S2
- **Recipient organization:** BAYLOR COLLEGE OF MEDICINE
- **Principal Investigator:** Carlos A. Bacino
- **Activity code:** U01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $149,922
- **Award type:** 3
- **Project period:** 2014-07-01 → 2022-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10377756

## Citation

> US National Institutes of Health, RePORTER application 10377756, Pilot of New Technologies to Increase the Genomic Diagnosis of Undiagnosed Disease Network (UDN) Patients (3U01HG007709-08S2). Retrieved via AI Analytics 2026-05-26 from https://api.ai-analytics.org/grant/nih/10377756. Licensed CC0.

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