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