Human Genomics Analysis Interface (U01-DE024425)

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Presentation transcript:

Human Genomics Analysis Interface (U01-DE024425) Mary L. Marazita Eleanor Feingold, Harry Hochheiser, Elizabeth J. Leslie, University of Pittsburgh Center for Craniofacial and Dental Genetics FaceBase Annual Meeting/Webinar May 20, 2019

ACKNOWLEDGEMENTS Current Staff : Nandita Mukhopadhyay Myoungkeun Lee Annette Krag-Jensen Lance Kennelty Tamra Mitchell Jim Gallagher Former Staff/Students : Tom Maher Justin Stickel Jenna Carlson Funding NIDCR U01-DE024425 Faculty: Mary L. Marazita Elizabeth Leslie Eleanor Feingold Harry Hochheiser

GOALS Develop software interface for Human Genomics Results No access to individual level data Secure hardware Identify appropriate craniofacial and oral genomics projects From research community, dbGaP, publications Create and display results from genomics projects E.g. Manhattan plots, LocusZoom Move to FaceBase Hub for ongoing management

UNDERLYING APPROACH User friendly, save user time Pre-calculate results databases (e.g. p-values at SNPs) For all relevant subsets: by ethnicity, by genotyped versus imputed panels, by phenotype, by environmental factors Customized: with input from PIs (e.g. published results) Manhattan plots LocusZoom interface for specific SNP/gene/region requests

YEAR 5 UPDATES Finished creation of projects for display 9 total projects: 5 OFC, 1 facial variation, 3 dental disorders 119 total results datasets available for visualization Revamped website for easier transition to Hub i.e. Static Manhattan plots; interactive LocusZoom plots Transition to Hub done (still working on search terms etc)

LINK https://www.facebase.org/hgai/

DEMONSTRATION

Remaining Issues with Transfer to Hub Enhance search terms at the Hub to be able to “find” the HGAI project for use cases such as: Animal model researchers looking for human results for genes of interest Human genetic researchers looking for results for genes of interest, e.g. to compare to their results Prepare figures for papers, e.g. LocusZoom, Manhattan, from projects Documentation on how to add new data