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Karen Eilbeck UCGD

Karen Eilbeck, PhD

CLICK HERE to visit the Eilbeck Lab website

Dr. Karen Eilbeck is Associate Professor of Biomedical Informatics and adjunct Assistant Professor of Human Genetics at the University of Utah. Dr. Eilbeck has led efforts to standardize terminology and data representation to enable computation upon and diagnostic use of genomic data files. As a member of the Gene Ontology Consortium, Dr. Eilbeck developed the Sequence Ontology and worked to integrate ontologies with public heath data. She is currently working with a CDC lead working group that includes representatives from diagnostic sequencing labs, sequencing platforms, informatics standards groups and policy makers, to understand the requirements for diagnostic use of variant files, and co-lead the development of VCFclin, a clinically-driven and fully backward compatible version of the VCF format. Dr. Eilbeck also co-leads the ClinVar data standards and IT working group, and is a member of the ClinGen data model group of the ClinGen¹s U41 consortium.

Recent Tweets

Twitter Feeds
Aaron Quinlan
Aaron Quinlan@aaronquinlanRT @duane_g_watson: Selecting the next department chair pic.twitter.com/qHXfAwG3364 hours ago11 August 2022
Aaron Quinlan
Aaron Quinlan@aaronquinlanPACB stock going nuts.7 hours ago11 August 2022
Aaron Quinlan
Aaron Quinlan@aaronquinlanRT @szintri: Tenure doesn't protect the people you are responsible for. I lose at least as much sleep worrying about keeping the postdocs,…17 hours ago11 August 2022
Aaron Quinlan
Aaron Quinlan@aaronquinlanIt sucks to see killer students not get everything they want so badly.21 hours ago11 August 2022
brent pedersen
brent pedersen@brent_pamong many other nuggest: 4.7X improvement in diagnosis rate given a full trio. twitter.com/carolinefwrigh…2 weeks ago27 July 2022
brent pedersen
brent pedersen@brent_pRT @carolinefwright: Mega-DDD diagnostics preprint! Iterative variant detection, annotation, filtering and interpretation, plus analysis of…2 weeks ago27 July 2022
brent pedersen
brent pedersen@brent_pRT @QAGreenways: We should redesign cities for autonomous kids, not autonomous cars. pic.twitter.com/bJ2ZerRdHA1 month ago28 June 2022
brent pedersen
brent pedersen@brent_pRT @EssiLaajala: "we note that this method will have a sensitivity and specificity that will depend on each dataset and we recommend that u…2 months ago22 June 2022
brent pedersen
brent pedersen@brent_pRT @EssiLaajala: Ten years ago, @brent_p et al. developed an efficient and generalizable tool called Comb-p to adjust spatially correlated…2 months ago22 June 2022
brent pedersen
brent pedersen@brent_pRT @EssiLaajala: For anyone working on #DNAMethylation or other spatially correlated data: doi.org/10.1080/155922… On how to avoid serious…2 months ago22 June 2022
IDbyDNA
IDbyDNA@idbydnaincThis week is National Laboratory Professionals week. Thank you to all laboratory professionals, who play a vital ro… twitter.com/i/web/status/1…3 months ago28 April 2022
IDbyDNA
IDbyDNA@idbydnaincIDbyDNA announces software update to their #Explify®* platform, improving assay analytical performance and software… twitter.com/i/web/status/1…3 months ago27 April 2022
IDbyDNA
IDbyDNA@idbydnaincIn case you missed us at #ECCMID: Check out our scientific posters and poster presentations featuring the use of… twitter.com/i/web/status/1…4 months ago26 April 2022
IDbyDNA
IDbyDNA@idbydnaincDon’t miss @johnrossen at the @illumina Integrated Symposium at #ECCMID 2022: Moving Next-Generation Sequencing to… twitter.com/i/web/status/1…4 months ago22 April 2022
IDbyDNA
IDbyDNA@idbydnainc#ECCMID 2022 - Pathogen Surveillance by #mNGS for Intubated Patients: A Reflex to Culture Model (RPIP).” Don’t miss… twitter.com/i/web/status/1…4 months ago22 April 2022
IDbyDNA
IDbyDNA@idbydnainc#ECCMID 2022 - Abstract preview: “Uropathogen Detection by Precision Metagenomics in Culture-Positive, Culture-Nega… twitter.com/i/web/status/1…4 months ago21 April 2022
Alistair Ward
Alistair Ward@AlistairNWardOur gene.iobio tool from the #iobio suite that is an important part of Frameshift Genomics' Mosaic platform has jus… twitter.com/i/web/status/1…9 months ago01 November 2021
Gabor Marth
Gabor Marth@MarthGaborThe paper describing our gene.iobio interactive variant analysis web tool is finally out: rdcu.be/czqFG.… twitter.com/i/web/status/1…10 months ago13 October 2021
Alistair Ward
Alistair Ward@AlistairNWardOur paper on our genetic variant analysis tool, gene.iobio, just came out. Take a look at the paper and the tool (… twitter.com/i/web/status/1…10 months ago13 October 2021
Alistair Ward
Alistair Ward@AlistairNWardWe've added a lot of new functionality to Mosaic. See the tutorial for more details: frameshift.io/blog/using-cha…1 year ago02 August 2021
Alistair Ward
Alistair Ward@AlistairNWardA new app from the iobio team has just been released. Take a look at the blog post and give the app a try iobio.io/2020/08/25/cli…2 years ago27 August 2020
Alistair Ward
Alistair Ward@AlistairNWardRT @pkerpedjiev: Here’s a fun project I’ve been working on for a while: a snappy bam file viewer built with @higlass_io 😎 Check out the dem…2 years ago25 March 2020
Gabor Marth
Gabor Marth@MarthGaborThe much-awaited Mosaic genomic viz and analytics platform is out from Framshift! Great work, guys! twitter.com/ChaseAllnMille…3 years ago28 January 2020
UCGDGenetics
UCGDGenetics@USTARGeneticsGreat news! twitter.com/averyholton/st…3 years ago19 November 2019
UCGDGenetics
UCGDGenetics@USTARGeneticsRT @NPR: New DNA-sequencing technology has made it possible to rapidly diagnose some baffling rare diseases that make babies sick. And eve…3 years ago28 October 2019
UCGDGenetics
UCGDGenetics@USTARGeneticsRT @JulieCKiefer: "We as parents are not all equal. Some of us pass on more mutations than others and this is an important source of geneti…3 years ago28 October 2019
Gabor Marth
Gabor Marth@MarthGaborRT @strnr: Another useful tool from an excellent team: genepanel.iobio.io twitter.com/biorxiv_genomi…3 years ago07 August 2019
UCGDGenetics
UCGDGenetics@USTARGeneticsRT @aaronquinlan: Check out our latest from @tomsasani detailing mosaicism and marked inter-family variability in germline mutation accumul…3 years ago19 February 2019
UCGDGenetics
UCGDGenetics@USTARGeneticsRT @tomsasani: Our new work describing de novo mutation dynamics in 33 large, three-generation CEPH/Utah pedigrees is up on bioRxiv (https:…3 years ago19 February 2019
UCGDGenetics
UCGDGenetics@USTARGeneticsRT @JulieCKiefer: When the top minds in medicine and science work together, they can do incredible things. Watch One in a Million, an 8-min…3 years ago11 February 2019
Gabor Marth
Gabor Marth@MarthGaborA brand new iobio.io app just out! genepanel.iobio.io helps you create a list of candidate gene… twitter.com/i/web/status/1…4 years ago04 December 2018
Gabor Marth
Gabor Marth@MarthGaborRT @aaronquinlan: In our new manuscript, we used WGS and comprehensive variant detection to diagnose 14/14 patients w/ EIEE. We implicated…4 years ago15 August 2018
Gabor Marth
Gabor Marth@MarthGaborRT @StacyWKish: Doctors @UofUHealth applied high-tech tools developed at @USTARGenetics to identify mutations causing a rare childhood dise…4 years ago13 August 2018
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