Library for structured reviews generation. NGLY1 Deficiency regulatory use case.

Category: Biomedical

Lead: Núria Queralt Rosinach

Members: JinDong, Kiyoko, Maxat, Leyla & Mark, Atsuko, Sebastian, Will

One-line description: Extend the library to create structured reviews around a hypothesis to retrieve edges from linked data. Use case: NGLY1 Deficiency rare disease, a congenital disorder of de-Glycosilation. Also very interested in developing a UI for the wikibase repo of the graph, to help researchers and patients to add/curate edges into the knowledge graph of the disease

GitHub: https://github.com/NuriaQueralt/graph-hypothesis-generation-lib/tree/master/plan

(Unrequired skills :) Python, SPARQL, Neo4j. Knowledge on rare diseases, cys-regulation of gene expression, glycoproteins science and related disorders, explore knowledge on the semantic semantic web

Achievements:

• Working on the integration of SPARQLBuilder for SW edge retrieval.
• FAIRness validation of the library successed.
• PubAnnotation NGLY1 Deficiency project set up w. ~30K abstracts annotated around NGLY1-CDDG
• Wikibase front end sketched
• vec2SPARQL project set up for drug repursposing
• Thanks to RDConnect platform and Steve a potential patient with CDDG found