NHLBI Informatics Resource

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The Informatics Resource Core provides advice to studies participating in a landmark NHLBI initiative to sequence 20,000 human genomes in 2015, as well as to sequencing centers and staff at the National Institutes of Health on the handling, processing and interpretation of large scale sequence data. The IRC will also be responsible for producing a joint analysis of available sequence data and aiding study investigators with informatics challenges when needed, particularly for cross study analyses. Long-term, a major goal of the Informatics Resource Center is to make study results easily accessible to a broad range of scientists.

Key Individuals

  • Mike Boehnke is a senior advisor, with focus on strategy and management issues
  • Cristen Willer is a senior advisor, with focus on complex trait genetics and interpretation
  • Hyun Min Kang is our expert on algorithms for sequence data processing
  • Sebastian Zoellner is in charge of population genetics
  • Shawn Lee is expert in rare variant association analyses
  • Sean Caron manages our compute and network infrastructure
  • Irina Degtiar is a graduate student helping with data processing issues

Key Technologies

To learn about some of the tools we have developed and will be using in this project, read about our GotCloud pipeline for sequence alignment, variant calling, and filtering, our EPACTS tool for association analyses with very large data, RAREMETAL for combining results across studies, LocusZoom for visualizing study results, Minimac (now in version 3 and online] for genotype imputation, which helps transfer sequence information from sequencing studies to array based studies and QPLOT and VerifyBamID for QC of sequence data.


We are thrilled to work with outstanding scientists at the University of Washington, the Broad Institute, the New York Genome Center, Johns Hopkins University, Harvard, the University of Maryland, UCSF, the University of Texas, the University of Mississippi, and the National Institutes of Health among other outstanding teams.