Current Projects

These projects have been awarded from the 2023 NCPI Interoperability Project Solicitation (March, 2023):

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