Agenda. Clarification of issues Quarter definition Steering and Executive Committee composition Dissemination and community outreach activities

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1 Agenda Clarification of issues Quarter definition Steering and Executive Committee composition Dissemination and community outreach activities Progress and updates Y1Q3 and plans for Y1Q4 Plan for the 8 Administrative Supplements

2 Quarter Definition Year 1 11 months Year 2 12 months Year 3 12 months Q1 09/30/14 Start Q1 09/01/15 Start Q1 09/01/16 Start Q2 12/31/14 Q3 03/31/15 Q4 06/31/15-08/31/15 2 months only Q2 12/01/15 Q3 03/01/16 Q4 06/01/16-08/31/16 Q2 12/01/16 Q3 03/01/17 Q4 06/01/17-08/31/17

3 Steering Committee Name Ian Fore Jennie Larkin Dawei Lin Ron Margolis Alison Yao NIH NIH NIH NIH NIH Institution Lucila Ohno-Machado Jeffrey Grethe George Alter Susanna-Assunta Sansone Hua Xu University of California San Diego University of California San Diego ICPSR, University of Michigan University of Oxford and Nature Publishing Group University of Texas Houston

4 Executive Committee Name Ian Fore Lucila Ohno-Machado Jeffrey Grethe George Alter Susanna-Assunta Sansone Hua Xu Institution NIH University of California San Diego University of California San Diego ICPSR, University of Michigan University of Oxford and Nature Publishing Group University of Texas Houston

5 Dissemination and Community Outreach Activities RFA for Pilot Project on Harvester Working Groups

6 Progress and Updates / Plans Y1Q4 Working Group 1 BD2K Centers of Excellence Collaboration Working Group 2 Data Identifiers Recommendation Working Group 3 Metadata Specifications Core Development Team

7 WG1 Collaboration with 4 BD2K centers (+3 attempts) Haussler (genomics D2K), Kohane (patient D2K), Kumar (mobile D2K) selected count queries across data types, expand Beacons Ping (heart D2K) selected ELIXIR Oxford and Ins Sys Biol (Seattle) Craven (D2 Predictive Models) not selected redundant data identification, linking the same person across data sets Musen (ontologies 2K) not selected needs assessment for data used by centers (Oxford) Maayan LINCS supplement submitted ranking visualization, crowdsourcing (with pilot 2.1) 2 Haussler supplements submitted: a. ATHENA breast cancer sequences+clinical data, b. Hashed IDs for observations

8 WG2 - Identifiers Will operate in two phases Phase 1 will review specifications, to be used in the initial prototype, for how the biocaddie DDI prototype will identify external datasets and resources. Deliverables for the Core Development Group June - July Phase 2 will more broadly address the long-term community needs specifying best practices and operating procedures for identifiers. Broader community engagement August onwards

9 WG2 - Identifiers 5 min Task/Description/Topic Date Final input for Phase I invitees 5/26 Summary material and initial agenda sent to WG2 members Present initial draft for DDI prototype s handling of identifiers; solicit feedback Review comments on draft of best practices and operating procedures for internal handling of identifiers that support the intended capability of the DDI prototype 6/8 6/11 6/25 Finalize Deliverable: Report to Core Dev Group for internal Data Identifier handling 7/9 Final input for Phase II invitees 7/23 Initial draft of Phase II scope 8/20

10 WG3 Metadata (Sansone) Full description: goals, synergies, phases, members & files Phase 1: core metadata (May-July 2015) Joint effort with CEDAR centre Synergies with BD2K Metadata WG (Musen/Alter) and ELIXIR activities External experts invited: Tanya Barrett Helen Berman Michael Braxenthaler Allen Dearry Michel Dumontier Carole Goble Melissa Haendal Marcelline Harris Michael Huerta Kevin Read Joan Starr Weida Tong Rai Winslow Dependency: WG4 Use Cases and Test Benchmarks

11 WG3 Metadata, phase 1; activities 1 Standard operating procedure document: to identify metadata descriptors and track their provenance from community standards, data models etc 2 List of competency questions, highlighting metadata: consolidate list from use cases workshop, white paper

12 WG3 Metadata, phase 1; activities 3 Mapping files: generic metadata schemas

13 WG3 Metadata, phase 1; activities 3 Mapping files: generic metadata schemas and life science specific

14 WG3 Metadata, phase 1, May-July 2015 Task/Description/Topic Date Metadata standards, selection and mapping - First iteration completed 5/28 Telecon (biocaddie staff only): discuss consolidated list of use cases 5/28 Core metadata elements selected, against use cases, and passed to Dev Team 6/11 Telecon (biocaddie staff only): review core metadata elements 6/11 Summary material ready for presentation to and review by WG3 members (external experts and biocaddie staff) Telecon (all WG3 members): present initial mapping, selected core metadata elements and use cases to WG3 members; solicit feedback 6/18 6/18 Feedback collected Core metadata reviewed, as needed 7/2 Mapping, core metadata elements and use cases packaged for final release 7/16

15 Core Dev. Team - Task assignment Task Responsible Team - Development site setup architecture design Claudiu (UCSD) Data Harvest - Repository resource management - Repository data import - Curation - Crawler Claudiu/Jeff (UCSD) Metadata management - Biomedical terminology service - Metadata management - Map data set description to standard metadata - Indexing Cui/Hua (UTHealth) Jeff (UCSD) Search engine/web portal - UI, workflow, usability Todd/Hua (UTHealth) - Advanced search strategies (e.g., query expansion, ranking), benchmark datasets Trevor/Hua (UTHealth) /Jeff (UCSD)

16 Core Dev. Team -Task assignment Task Due Set up the webportal datamed.biocaddie.org 6/31 (ongoing) Data ingestion process PDB dataset dbgap dataset LINCS (BD2K) dataset? Ontology web services Pilot project integration PP 1.1 and PP 2.2 PP 2.1 UI Development Use Cases and benchmark dataset development User needs survey Completed Ongoing To be decided Ongoing Ongoing Initiated Ongoing 8/31 (ongoing) 8/31 (ongoing)

17 Data Indexing Pipeline 1. Configuration file developed by curator 2. Extraction of metadata/data from data resource or dataset via ingestion module Cache information for further processing 3. Process metadata/data via sequential set of processing modules e.g. ID conversion, keyword extraction, data normalization 4. Mapping of metadata/data to metadata model(s) 5. Export to target endpoint(s)via export modules 6. Search via ElasticSearch APIs

18 Data Indexing Pipeline Current Technologies 1. JSON based documents and services 2. mongodb (Apache 2 license) being used to manage cached dataset description documents 3. Processing pipeline components can take advantage of cloud deployment for scalability 4. Document processing coordinated via messaging queue (Apache ActiveMQ (Apache 2 license)) 5. ElasticSearch (Apache 2 license) being used as index endpoint Simple cloud deployment and management Sophisticated RESTful API Advanced index customization Full power of lucene and plug-ins

19 UI/Search workflow Query Entry Identify Entities Expand (synonyms, hyponyms) Execute query ElasticSearch BioCADDIE backend Terminology Server Organize results Facets General present format Visualization Advanced filters

20 Deliverables

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