monarch-initiative phenomics_first_resource issues

monarch-initiative / phenomics_first_resource

Project Management repository for anything in and around the Phenomics First Resource (PFR)

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Aim 3.3.2 Pedigree exchange

#31 sagehrke opened 1 year ago
0
Aim 3.3.1 Clinical phenotype export

#30 sagehrke opened 1 year ago
1
Aim 2.3.3 Term Maturity levels, public opinion period, and conflict resolution

#29 sagehrke opened 1 year ago
4
Aim 2.3.2 Biological curation process

#28 sagehrke opened 1 year ago
4
Aim 2.3.1 Computational comparison

#27 sagehrke opened 1 year ago
2
Aim 2.2.2 Develop tools for reconciling information from different sources

#26 sagehrke opened 1 year ago
2
Aim 2.2.1 Create a unified data model for disease knowledge.

#25 sagehrke opened 1 year ago
6
Aim 2.1.2 Maintain high-quality equivalence mappings, working with the community to resolve upstream issues.

#24 sagehrke opened 1 year ago
1
Aim 2.1.1 Create a containerized workflow for executing the k-BOOM disease harmonization algorithm.

#23 sagehrke opened 1 year ago
2
Aim 4.3. Extend the FHIR API specification to improve terminology use for clinical genetics

#22 sagehrke opened 1 year ago
0
Aim 4.2 Disseminate PFR ontologies for clinical use via FHIR

#21 sagehrke opened 1 year ago
3
Aim 4.1 Make phenomic and disease information available via API for basic research and the clinical community

#20 sagehrke opened 1 year ago
1
Aim 3.4: Record novel (“n-of-1”) diseases

#19 sagehrke opened 1 year ago
1
Aim 3.3: Improve phenotype exchange into and out of the EHR in collaboration with HL7/FHIR

#18 sagehrke opened 1 year ago
1
Aim 3.2: Harden and refine Phenopackets and associated authoring and quality assurance tools

#17 sagehrke opened 1 year ago
0
Aim 3.1: Coordinate requirements with EHRs (FHIR), journals, labs, patient registries, databases, patients, and clinicians

#16 sagehrke opened 1 year ago
0
Aim 2.3 Design governance process for and coordinate co-development of MONDO with other disease resources

#15 sagehrke opened 1 year ago
6
Aim 2.2 Develop disease-phenotype data model and collate resulting interoperable annotations

#14 sagehrke opened 1 year ago
0
Aim 2.1 Create Mondo resource and bridging axioms

#13 monicacecilia opened 1 year ago
0
Aim 1.2.4 Reconciliation Workbench

#12 matentzn opened 2 years ago
3
Aim 1.2.3 Ontology Development Kit (ODK)

#11 matentzn opened 2 years ago
1
Aim 1.2.2 Phenotype definition editor

#10 matentzn opened 2 years ago
6
Aim 1.2.1 Tooling to find and edit templates

#9 matentzn opened 2 years ago
2
Aim 1.1.4 Build uPheno

#8 matentzn opened 2 years ago
2
Aim 1.1.3 Use term templates to bootstrap new phenotype ontologies

#7 matentzn opened 2 years ago
2
Aim 1.1.2 Refactor and align existing phenotype ontologies

#6 matentzn opened 2 years ago
2
Aim 1.1.1 Build a library of phenotype term templates.

#5 matentzn opened 2 years ago
1
Aim 1.4 Develop templates for new kinds of phenotypes

#4 matentzn opened 2 years ago
1
Aim 1.3 Extend and improve the semantic infrastructure required for phenotype ontology development

#3 matentzn opened 2 years ago
2
Aim 1.2 Develop tools to improve the efficiency and quality control of templated-based phenotype ontology development

#2 matentzn opened 2 years ago
0
Aim 1.1. Develop, apply and evaluate a library of uPheno term templates in collaboration with phenotype ontology developers

#1 matentzn opened 2 years ago
0