ClinGen paper now out

http://www.ncbi.nlm.nih.gov/pubmed/26014595 -NEJM    

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 →

bioinformatics blog

Keith Bradnam -Manchester University Bioinformatics Masters alum, asked me to answer some questions for his popular nerdy blog http://www.acgt.me. You... Continue reading →