Current Projects

These projects have been awarded from the 2023 NCPI Interoperability Project Solicitation (March, 2023). Summaries of each project and links to their working repositories are available on the NCPI GitHub.

1. Facilitating understanding of shared disease mechanisms leveraging interoperability standards across dbGaP/SRA, ImmPort, and Kids First DRC
   Allison Heath, PhD (Project PI); Children's Hospital of Philadelphia

   Elizabeth Thomson; Peraton, Inc.

   Jack DiGiovanna, PhD; Velsera, Inc. (Seven Bridges Genomics, Inc.)

   Chad Shaw, PhD; Baylor College of Medicine

   Atul Butte, MD, PhD; University of California, San Francisco
2. Connecting FHIR, and CDA and DRS across NIH cloud resources
   Kyle Ellrott, PhD (Project PI); Oregon Health and Science University

   Amanda Charbonneau, PhD; General Dynamics Information Technology, Inc.

   Boris Aguilar, PhD; Institute for Systems Biology
3. 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 (Project PI); John Hopkins University

   Alisa Manning, PhD; Broad Institute

   Stephen Montgomery, PhD; Stanford University
4. AnVIL/Velsera-CGC interoperability project to study the genetic and transcriptomic contributions towards Hispanic colorectal cancer health disparities
   Michael C. Schatz, PhD (Project PI); John Hopkins University

   Jack DiGiovanna, PhD; Velsera, Inc. (Seven Bridges Genomics, Inc.)

   Sourav Roy, PhD; University of Texas at El Paso
5. Integrated data exploration of AnVIL and Kids First to enable sex-biased chromosome association and determine the genetic basis of Ollier disease and Maffucci syndrome
   Benedict Paten, PhD (Project PI); University of California, Santa Cruz

   Jack DiGiovanna, PhD; Velsera, Inc. (Seven Bridges Genomics, Inc.)

   Melissa Wilson, PhD; Arizona State University

   Robert Carroll, PhD; Vanderbilt University Medical Center

   Nara Lygia de Macena Sobreira, MD, PhD; Johns Hopkins Medicine

   Allison Heath, PhD; Children's Hospital of Philadelphia

   Alex Baumann, PhD; Broad Institute