ClinGen paper now out
http://www.ncbi.nlm.nih.gov/pubmed/26014595 -NEJM
Dept. of Biomedical Informatics, University of Utah
http://www.ncbi.nlm.nih.gov/pubmed/26014595 -NEJM
Congratulations to Alex Henrie, Alex Macharia and Lila Mullany Who graduated from my lab at the end of the Spring... Continue reading →
Metabolic Phenotypes in the ClinGen Repositories Karen Eilbeck1, Donna Maglott2, Melissa Landrum2, Sara Velden3, MarziaPasquali3, Elaine Lyon3, Nicole Ruiz1, William... Continue reading →
We have had several abstracts accepted for presentation at the ACMG conference to be held in SLC in March. Exploring... Continue reading →
Catherine Staes is presenting our paper about the CDC’s reportable condition knowledge management system at the Ontology, Terminology, and Semantics, which... Continue reading →
My lab attended the USTAR confluence meeting this week and Keith presented a poster titled Taxonomer: Rapid and accurate assessment... Continue reading →
In September I went to DC to the IGNITE network consortium meeting, as part of the ESP for the NHGRI.... Continue reading →
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 →
Jingshan Huang was awarded a 3 year NIH grant to further develop OMIT, reported in genomeweb. I am happy to... Continue reading →
A paper with the Staes lab came out today: Birth of identity: understanding changes to birth certificates and their value for... Continue reading →