The review is out now
Settling the score: variant prioritization and Mendelian disease Karen Eilbeck, Aaron Quinlan & Mark Yandell Nature Reviews Genetics (2017) doi:10.1038/nrg.2017.52 Published online 14... Continue reading →
biocuration conference 2017
Nicole Ruiz will be presenting a poster: hgvs-eval: automated evaluation suite to assess HGVS-formatting tools at the biocuration conference at the... Continue reading →
VMC workshop
I attended a productive 2 day GA4GH Variation Modeling Collaboration workshop in Cambridge, to continue development of the model and... Continue reading →
GFVO: the Genomic Feature and Variation Ontology.
After much work on behalf of Joachim Baran, the GVFO paper (GFVO: the Genomic Feature and Variation Ontology) is now... Continue reading →
ClinGen paper now out
http://www.ncbi.nlm.nih.gov/pubmed/26014595 -NEJM
Phevor will be going to ICCG
We have had our abstract accepted for ICCG in June, and will be presenting on Phevor. Marc Singleton will give... Continue reading →
more USTAR media
The USTAR Genetic Discovery Program is has been in the media lately: radio http://healthcare.utah.edu/the-scope/shows.php?shows=0_u2jznfk1 TV http://www.kutv.com/news/top-stories/stories/vid_10291.shtml
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 →