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All the meetings that didn't get posted
It has been a busy summer and I have not been good about keeping up my web page. Hare are the meetings that I presented at recently. Panel Local Use of External Resources: Lessons from Host and Defense presented to Transition to Medical School for MS2023, University of Utah School of Medicine. Meeting Presentation Local Paloma […]
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Undergrad opportunity – apply now
The department of Biomedical Informatics received an NLM supplement to support 6 undergraduate summer projects. I will be hosting one of them: https://our.utah.edu/spur/2019-projects/eilbeck/ learn more: https://our.utah.edu/spur/ Apply now. https://ugs.formstack.com/forms/spur_student_2019
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Atlanta here I come!
I found out this morning that I have been accepted for the 2018 AAMC Mid-Career Women Faculty Leadership Development Seminar to be held in Atlanta. The Women in Health, Medicine & Science (WiHMS) Program and the Office of Health Equity & Inclusion at the University of Utah are generously sponsoring my attendance. A big thank you […]
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GREEKC workshop
Cost Actions are an EU funding mechanism to get scientists together to work on bigger projects. I am here at the EBI to work on gene regulation for the GreekC project. Yesterday there were talks, and today it is workshops and discussions. We are looking at use cases, models and ontology development. Chris Mungall just gave a presentation […]
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Educational Scholarship certificate
I just found out I have been accepted to the certificate program for Educational Scholarship Certificate with The University of Utah Academy of Health Science Educators. Since becoming chair of the curriculum committee, and vice chair for education in my department, it has become more apparent that the work we do as service to our education mission deserves to be rigorous and go through peer review and dissemination, in the same way that our research does. I’m pretty excited about what I will learn in this course.
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GreekC workshop
Post-doc Michael Sinclair and I have been participating in a long distance ontologython to build foundations for a gene regulation ontology with the European Union funded group: GREEKC http://www.greekc.org/. Michael will be joining them next week in Hinxton for a workshop.
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Student fellowship and new paper
I am pleased to report that one of our med students, Zac Fica has been selected for a NIH Ruth L. Kirschstein National Research Service award through our institutional training grant T35HL007744. Zac will work with my group improving ClinVar Miner over the summer. I met Zac while facilitating case-based learning modules for the school of […]
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recent updates
Lots of updates for the Group Students: Andrew Miller, DBMI PhD candidate working jointly in Professors Eilbeck and Facelli labs and funded by a National Institute of Environmental Health supplement to the department National Library of Medicine T15 Training grant (3 T15 LM007124 21S1) has been selected to work with Professor Russ Altman (Stanford University) year-in-review […]
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Programming for Biology
I didn’t make it to New York yesterday because of flight delays – a giant storm was consuming much of the East Coast. So I got up at 5am this morning to present Ontologies for Biology, to the Programming for Biology course at Cold Spring Harbor. This is a really special class that has been running for years, and this year made the switch from Perl to Python. Students who graduate from this program generally have a career pivot that involves bioinformatics. I was really happy to be invited to be part of the course this year and want to…
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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 August 2017 Abstract: When investigating Mendelian disease using exome or genome sequencing, distinguishing disease-causing genetic variants from the multitude of candidate variants is a complex, multidimensional task. Many prioritization tools and online interpretation resources exist, […]