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Phenomics Workshop Series

A series of conferences and community gatherings to coalesce phenomics informatics data structures, ontologies, algorithms, and tools.

Innovation across the Phenotypic Translational Divide Webinar - Part 3

Cross Species Phenotyping

Date Day Time (Pacific time) Time (Eastern time)
January 27, 2021 Wednesday 8-11am 11am-2pm


The Gabriella Miller Kids First Pediatric Research Program (Kids First) has built a cloud-based data resource for sharing and analyzing genomic and associated clinical and phenotypic data from a variety of childhood cancer and/or structural birth defects cohorts. A critical next step to uncovering the etiologies and shared pathways underlying these conditions relies on functional validation using model systems and related tools and databases. Together with the Monarch Initiative, this webinar aims to foster new collaborations among a rapidly expanding community of development biologists, clinicians, tools developers, and data scientists seeking to accelerate pediatric research. Attendees will help identify new opportunities for building connections across resources to promote cross-species discovery with the ultimate goal of improving preventative measures, diagnostics, and therapeutics for children and families impacted by childhood cancer and structural birth defects.


Topic Speaker Duration
Introduction to the value of cross-species research Melissa Haendel 10 min
Use Cases: How structural birth defects and childhood cancer researchers use model systems to inform genetic discovery    
Cardiovascular diseases Matt Wheeler 10 min
Congenital Diaphragmatic Hernia Wendy Chung 10 min
Cranial dysinnervation disorders Elizabeth Engle 10 min
PDX neuroblastoma mouse models John Maris 10 min
Break   5 min
Keynote: Diagnostic successes in Genomics England Damian Smedley 10 min
Panel: Model Organism Databases Chaired by Damian Smedley 35 min
KOMP2/IMPC - Mouse models Pilar Cacheiro  
Integrated Canine Data Commons - Canine models Todd Pihl  
Xenbase - Frog models Mardi Nenni  
ZFIN - Zebrafish models Yvonne Bradford  
Integrating cross-species resources in a Common Fund Data Ecosystem to inform Kids First genetic discovery Deanne Taylor 10 min
Panel: Cross-phenotyping tools and resources Chaired by Deanne Taylor 30 min
uPheno and patternizing for organismal interoperability Nico Matentzoglu  
The Monarch knowledge graph and Biolink API for querying and analytics Justin Reese, Kent Shefchek and Deepak Unni  
Break   5 min
Brainstorm: How existing model organism databases and tools can interact with the Kids First Data Resource to inform variant validation   25 min
Closing remarks Nicole Vasilevsky 5 min


Part 3 Meeting slides + Brainstorming

Part 3 Recording

Available here

Pre-meeting Resources

Since time for presentations is limited, we encourage you to learn more about some of the databases, resources, and projects that you will hear more about during the webinar, in advance of the meeting.


Part 1 Webinar:

Part 2 Webinar: