Reed Gardner Faculty Excellence Award
At the annual BMI awards on Friday I was shocked to win the Reed Gardener award. This is a student... Continue reading →
SnpEff and SO
We (mostly Nicole) have been quietly working with Pablo Cingolani and Uma Devi Paila on mapping the SnpEff variant effect... 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 →
A few new papers
It seems like years ago since we put together a three site team to participate in the Clarity Challenge. This... Continue reading →
Annotation Jamboree
My lab, in collaboration with the Yandell lab (Human Genetics) will be hosting a cancer themed annotation jamboree next week... Continue reading →
USTAR Genetic Discovery Program
The USTAR Genetic Discovery Program, an initiative within the University of Utah has announced the first hire: Gabor Marth. I... Continue reading →
2014 Public Health Informatics Conference
We have had our session titled “RCKMS: Delivering Reporting Specifications in the New World!” selected for presentation at the 2014... 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 →
Precision medicine endeavor uses GVF to annotate personal genome
In a paper detailing genome sequencing of an individual, GVF was used to communicate the clinical annotation of the variants: Integrating... Continue reading →