This repository contains introductions to the 2024 NCPI Interoperability Projects. These introductions provide a brief overview of the tools or services the projects are developing that enable or extend interoperability. The main work of each project is housed by the project team, and each project page will link to their repository.
| Project Number | Project Name | PI; Institution | Brief Description |
|---|---|---|---|
P01-002 |
AnVIL-BioData Catalyst interoperability project to leverage GTEx, T2T and HPRC to study rare genetic variants in TOPMed cohorts with deep phenotype data, whole genome sequence data, and RNA-sequence data | Michael C. Schatz, PhD; John Hopkins University | The AnVIL-BioData Catalyst Interoperability Project aims to leverage GTEx, T2T, and HPRC datasets to study rare genetic variants in TOPMed cohorts. One of the primary interoperability goals of this project is cloud-enabling the data pipelines and workflows for the Watershed model. |
P01-003 |
Facilitating understanding of shared disease mechanisms leveraging interoperability standards across dbGaP/SRA, ImmPort, and Kids First DRC | Allison Heath, PhD; Children's Hospital of Philadelphia | This project aims to facilitate data integration and interoperability for studying disease mechanisms by harmonizing phenotypic and genomic data across platforms using the FHIR standard, focusing on datasets from dbGaP, ImmPort, and Kids First DRC. |
P01-004 |
AnVIL/Velsera-CGC interoperability project to study the genetic and transcriptomic contributions towards Hispanic colorectal cancer health disparities | Michael C. Schatz, PhD; John Hopkins University | The AnVIL/Velsera-CGC Interoperability Project seeks to enhance data interoperability by integrating genomic datasets from the 1000 Genomes Project on AnVIL with cancer-specific datasets from the Velsera Cancer Genomics Cloud. |
P01-007 |
Connecting FHIR, the CDA and DRS across NIH cloud resources | Kyle Ellrott, PhD; Oregon Health and Science University | This project aims to develop a FHIR aggregator to enhance data interoperability and access across NIH consortia, facilitating comprehensive research analyses. |
P01-008 |
Integrated data exploration of AnVIL and KidsFirst to enable sex-biased chromosome association and determine the genetic basis of Ollier disease and Maffucci syndrome | Benedict Paten, PhD; University of California, Santa Cruz | The project aims to enable seamless data discovery and analysis across AnVIL and Kids First by developing common APIs, harmonized metadata, and integrated analysis capabilities across the platforms. |