GA4GH Variant Modeling Collaboration
I have been virtually attending the GA4GH Variant Modeling Collaboration meeting in Boston, bringing together ClinGen, GA4GH, HL7, FHIR, NCBI and... Continue reading →
miRNA updates
Trends in Genetics has just released miRNA Nomenclature:AView Incorporating GeneticOrigins, Biosynthetic Pathways,and Sequence Variants, a collaborative opinion paper with T. Desvignes, P. Batzel,... Continue reading →
MCAD poster at ClinGen Decipher
Metabolic Phenotypes in the ClinGen Repositories Karen Eilbeck1, Donna Maglott2, Melissa Landrum2, Sara Velden3, MarziaPasquali3, Elaine Lyon3, Nicole Ruiz1, William... Continue reading →
AMIA paper
Catherine Staes is presenting our paper about the CDC’s reportable condition knowledge management system at the Ontology, Terminology, and Semantics, which... Continue reading →
USTAR confluence meeting
My lab attended the USTAR confluence meeting this week and Keith presented a poster titled Taxonomer: Rapid and accurate assessment... Continue reading →
RCKMS paper update
We have been accepted by AMIA to present our paper ‘Evaluation of need for ontologies to manage domain content for... Continue reading →
The Clinical Genome Conference
I attended the Clinical Genome conference last week in San Francisco and presented in the NGS REFERENCES AND STANDARDS ARE NOT... Continue reading →
CSHL Biology of Genomes
Our abstract The Utah Genome Project has been accepted for a talk at the Biology of Genomes meeting in CSHL,... Continue reading →
Conference Posters in the next week or so
Jeff Duncan from the Staes lab is presenting a poster at AMIA next week:Using KAoS Ontologies to Model Policy Requirements... Continue reading →
Association for molecular pathology meeting
Keith is presenting in a workshop “Informatics and the Human Microbiome” at the Association for Molecular Pathology meeting in Phoenix in... Continue reading →