# Core B: Genomics and Bioinformatics Core

> **NIH NIH P01** · VERSITI BLOOD HEALTH, INC. · 2021 · $344,009

## Abstract

PROJECT SUMMARY: CORE B
The overall theme of this PPG is to further understand the molecular mechanisms of von Willebrand Disease
(VWD). Each Project will study unique quantitative and qualitative aspects of von Willebrand factor (VWF) and
VWD which will involve many next-generation sequencing (NGS) experiments. Since the sequence data will
require extensive computational, bioinformatic and statistical analyses, we have established a Genomics and
Bioinformatics Core to serve these critical needs. In addition, this Core will provide a major data-storage and
data-sharing function for both this PPG and for investigators worldwide. This Core will have three Specific
Aims. Aim 1 will focus on performing all the NGS and analysis for this PPG. The Core personnel will work
closely with Project investigators in the design of proposed experiments, and will provide standard analysis of
both coding and noncoding sequences for each project. Core B will produce extensive upstream analyses of
VWF, RNA seq, genetic and epigenetic genome wide sequences and thorough genomic analyses of patients
with low VWF levels but no mutations in VWF. Critical to this application, the Core personnel will also provide
data interpretation and additional follow-up data-driven iterative analyses as are often required. This will permit
major increase in efficiency by having computational biologists dedicated to this PPG; will offer an iterative
approach since analysis of NGS data is complex and experiment driven and will provide consistency regarding
analytic approaches. Aim 2 will guarantee data storage, management and transfer. The Genomics and
Bioinformatics Core will utilize a newly generated genomic Analytic Platform, which will be exclusive to this
application. This platform will be the input conduit and repository for all raw sequencing data and for all NGS
analyses in this PPG. All relevant genomic results will be transferred to the Velos clinical database in Core A,
where they will be incorporated with phenotype/outcome data to generate a user-friendly interface that enables
the simultaneous queries by PPG investigators of phenotype and VWF sequence variants, as well as other
genes involved in VWD. Aim 3 will be focused on providing local and public data sharing. We will ensure
that raw and analyzed sequencing data are submitted to stable repositories that are accepted by the research
community and in accordance with NIH Data Sharing policy. Therefore, a major goal of the Genomics and
Bioinformatics Core will be to expand public access to the generated genomic data by interactive public web
tools. Within the last year of the PPG we will generate a public web site with a user-friendly interface that
enables queries on multiple VWF sequence variants, other genes involved in VWD, and phenotype datasets
simultaneously. Ultimately Core B represents a central conduit for genomic and bioinformatics flow of data of
this PPG therefore contributing significantly to further understan...

## Key facts

- **NIH application ID:** 10113374
- **Project number:** 5P01HL144457-03
- **Recipient organization:** VERSITI BLOOD HEALTH, INC.
- **Principal Investigator:** Jorge A Di Paola
- **Activity code:** P01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $344,009
- **Award type:** 5
- **Project period:** 2019-03-15 → 2024-02-29

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10113374

## Citation

> US National Institutes of Health, RePORTER application 10113374, Core B: Genomics and Bioinformatics Core (5P01HL144457-03). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10113374. Licensed CC0.

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