Data Platform

Data Platform Roadmap

Key & Controls:

Area Infrastructure Curations Open Access
Workstreams G V D Current Proposed/Pending Current Proposed/Pending Current Proposed/Pending
Gene Disease Validity Assertions
Gene Curation
 
GCI Publish (Stream)
Allele Registry (Service)
Gene Validity (Model)
GCI Gene Tracker (Stream)
Gene Validity (Service)
Gene Validity SEPIO (Model)
GCI (UI)
Gene Tracker (UI)
Gene Tracker Integration (Ext)
Definitive gene curation workflow (Ext)
Website (UI)
Gene Validity (Service)
Website-Gene/Dis (Ext)
Gene-Disease Actionability Evaluations
Actionability
 
ACI Publish (Stream)
ACI (Service)
Actionability (Model)
Actionability SEPIO (Model)
ACI (UI)
 
Website (UI)
ACI (UI,Service)
Website-Gene/Dis (Ext)
Seq Variant Disease Pathogenicity Assertions
Genomic Variant / SVI
 
Allele Registry (Service)
Pathogenicity Calculator (Service)
ERepo-VCI Publish (Service)
LD Hub-VPT (Service)
VCI Publish (Stream)
ClinVar Subm Generator (Service)
SeqVar Path SEPIO (Model)
Allele Registry-CNV (Ext)
VCI (UI)
VCI-ERepo (Ext)
VPT (UI)
Pathogenicity Calculator (UI)
VCI-ClinVar (Ext)
VCI-Gene (Ext)
VCI-VCEP Rules (Ext)
VPT-VCI Upload (Ext)
ERepo (UI,Service)
Allele Registy (UI,Service)
ClinVar (UI)
Website-ClinVar (Ext)
Dosage Sensitivity Assertions
Dosage Sensitivity Curation
DSI Publish (Stream)
Dosage Sensitivity SEPIO (Model)
DSI (Service)
NCBI DSI (UI)
DSI (UI)
Website (UI)
NCBI DSI (UI)
DSI (Service)
Website-Gene/Dis (Ext)
CNV Disease Pathogenicity Assertions
CNV Interpretation
   
Allele Registry-CNV (Ext)
CNV Path (Model)
CNV Path Publish (Stream)
CNV Calculator (UI)
CNV Curation Interface (UI)
ClinVar (UI)
Website-ClinVar (Ext)
ERepo-CNV Path (Ext)
Allele Registry-CNV (Ext)
Somatic Variant Assertions
Somatic Cancer
   
Somatic MVLD (Model)
Complex Variation (Model)
CIViC (UI)
 
CIViC (UI)
ERepo-Somatic (Ext)
Case Level Data Evidence Collection
Genomic Variant / SVI
   
Case Level (Model)
LD Hub-Case Data (Ext)
Case Registry (Service)
VCI-Case Seg (Ext)
Case Registry (UI)
   
Functional Data Evidence Collection
Stanford/Baylor Grant UNC Grant
 
Func Data Repo (Service)
LD Hub-Func Data (Service)
Allele Func Impact (Model)
 
VCI-Func Data (Ext)
Func Data Pipeline (UI)
     
Community Literature Curation
Community Curation Cmte (C3)
hypothes.is (Service)
LD Hub-Lit Anno (Ext)
hypothes.is templates (UI)
Community Curation Tracker (UI)
hypothes.is (UI,API)
 
ClinVar Data Integration
Broad/Geisinger Grant
   
ClinVar Data (Stream)
ClinVar Variant Interp (Model)
ClinVar Data Repo (Service)
 
ClinVar Data Producer (Service)
 
Website-ClinVar (Ext)
Variant Path Discrepancy Resolution
Seq/CNV Variant Discrepancy Resolution
   
ClinVar Data (Stream)
 
Discrepancy Resolution Tool (UI)
Allele Registry-CNV (Ext)
 
Website-ClinVar (Ext)
Expert Panel & Affiliation Adminstration
CDWG Oversight Cmte
VCI-GCI Affiliation (File)
Affiliation EP (Model)
Affiliation Mgmt (Service)
 
Affiliation Mgmt (Ext)
 
Affiliation Mgmt (UI,Service)

Data Platform Calls

Workstream Alignment Call (stakeholders)
Bi-weekly, Wed 1-2p ET - product owners and stakeholders addressing application integration related concerns.

Infrastructure Alignment Call (technical)
Bi-weekly, Wed 1-2p ET - product owners and developers addressing technical integration related concerns.

Data Modeling Call
Weekly Tuesday 12-1p ET - working meeting to drive through the list of data modeling requirements across workstreams.

Software Prioritization Call
Monthly, First Friday of Month 1-2p ET - provide transparency on the progress and to engage leadership on addressing the challenges across all workstream product development.


Name Role
Larry Babb Executive Leadership
Helio Costa, PhD Executive Leadership
Aleksandar Milosavljevic, PhD Executive Leadership
Hannah Wand Coordinator

Leadership

Larry Babb

Helio Costa, PhD

Aleksandar Milosavljevic, PhD


Coordinators

Please contact a coordinator if you have questions.

Hannah Wand


Membership

Membership in this committee spans many fields, including genetics, medical, academia, and industry. [View Members]
For more information, please contact:

Hannah Wand