Karen Eilbeck

Karen Eilbeck

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Karen Eilbeck

Karen Eilbeck

Publications by authors named "Karen Eilbeck"

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37Publications

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ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data.

Hum Mutat 2018 08 21;39(8):1051-1060. Epub 2018 Jun 21.

Department of Biomedical Informatics, University of Utah School of Medicine, Salt Lake City, Utah.

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http://dx.doi.org/10.1002/humu.23555DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6043391PMC
August 2018

Settling the score: variant prioritization and Mendelian disease.

Nat Rev Genet 2017 10 14;18(10):599-612. Epub 2017 Aug 14.

Department of Human Genetics, Eccles Institute of Human Genetics, School of Medicine, University of Utah, 15 S 2030 E, Salt Lake City, Utah 84112, USA.

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http://dx.doi.org/10.1038/nrg.2017.52DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5935497PMC
October 2017

The genomic CDS sandbox: An assessment among domain experts.

J Biomed Inform 2016 Apr 15;60:84-94. Epub 2016 Jan 15.

Medical University of South Carolina, Charleston, SC, United States. Electronic address:

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http://dx.doi.org/10.1016/j.jbi.2015.12.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4948866PMC
April 2016

Unbiased Detection of Respiratory Viruses by Use of RNA Sequencing-Based Metagenomics: a Systematic Comparison to a Commercial PCR Panel.

J Clin Microbiol 2016 Apr 27;54(4):1000-7. Epub 2016 Jan 27.

University of Utah School of Medicine, Department of Pathology, Salt Lake City, Utah, USA ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah, USA

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http://dx.doi.org/10.1128/JCM.03060-15DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4809917PMC
April 2016

A high-throughput next-generation sequencing assay for the mitochondrial genome.

Methods Mol Biol 2015 ;1264:77-88

ARUP Laboratories, ARUP Institute for Clinical and Experimental Pathology, 500 Chipeta Way, Salt Lake City, UT, 84108, USA,

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http://dx.doi.org/10.1007/978-1-4939-2257-4_8DOI Listing
October 2015

Building an Ontology for Identity Resolution in Healthcare and Public Health.

Online J Public Health Inform 2015 1;7(2):e219. Epub 2015 Jul 1.

Department of Biomedical Informatics, University of Utah, Salt Lake City, UT USA.

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http://dx.doi.org/10.5210/ojphi.v7i2.6010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4576444PMC
September 2015

Improving the Sequence Ontology terminology for genomic variant annotation.

J Biomed Semantics 2015 31;6:32. Epub 2015 Jul 31.

Department of Biomedical Informatics, University of Utah, Salt Lake City, UT USA.

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http://dx.doi.org/10.1186/s13326-015-0030-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4520272PMC
August 2015

GFVO: the Genomic Feature and Variation Ontology.

PeerJ 2015 5;3:e933. Epub 2015 May 5.

Stanford Center for Biomedical Informatics Research, School of Medicine, Stanford University , Stanford, CA , USA.

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http://dx.doi.org/10.7717/peerj.933DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4435477PMC
May 2015

Birth of identity: understanding changes to birth certificates and their value for identity resolution.

J Am Med Inform Assoc 2015 Apr 30;22(e1):e120-9. Epub 2014 Jul 30.

Department of Biomedical Informatics, University of Utah, Salt Lake City, Utah, USA.

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http://dx.doi.org/10.1136/amiajnl-2014-002774DOI Listing
April 2015

Technical desiderata for the integration of genomic data with clinical decision support.

J Biomed Inform 2014 Oct 12;51:3-7. Epub 2014 Jun 12.

Department of Biomedical Informatics, University of Utah, Salt Lake City, UT, United States.

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http://dx.doi.org/10.1016/j.jbi.2014.05.014DOI Listing
October 2014

Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families.

Am J Hum Genet 2014 Apr;94(4):599-610

Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT 84112, USA; Utah Science, Technology, and Research Center for Genetic Discovery, University of Utah, Salt Lake City, UT 84112, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.03.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3980410PMC
April 2014

A proposed clinical decision support architecture capable of supporting whole genome sequence information.

J Pers Med 2014 Apr;4(2):176-99

Department of Biomedical Informatics, University of Utah, 26 South 2000 East, Room 5775 HSEB, Salt Lake City, UT 84112, USA.

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http://dx.doi.org/10.3390/jpm4020176DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4234046PMC
April 2014

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Authors:
Catherine A Brownstein Alan H Beggs Nils Homer Barry Merriman Timothy W Yu Katherine C Flannery Elizabeth T DeChene Meghan C Towne Sarah K Savage Emily N Price Ingrid A Holm Lovelace J Luquette Elaine Lyon Joseph Majzoub Peter Neupert David McCallie Peter Szolovits Huntington F Willard Nancy J Mendelsohn Renee Temme Richard S Finkel Sabrina W Yum Livija Medne Shamil R Sunyaev Ivan Adzhubey Christopher A Cassa Paul I W de Bakker Hatice Duzkale Piotr Dworzyński William Fairbrother Laurent Francioli Birgit H Funke Monica A Giovanni Robert E Handsaker Kasper Lage Matthew S Lebo Monkol Lek Ignaty Leshchiner Daniel G MacArthur Heather M McLaughlin Michael F Murray Tune H Pers Paz P Polak Soumya Raychaudhuri Heidi L Rehm Rachel Soemedi Nathan O Stitziel Sara Vestecka Jochen Supper Claudia Gugenmus Bernward Klocke Alexander Hahn Max Schubach Mortiz Menzel Saskia Biskup Peter Freisinger Mario Deng Martin Braun Sven Perner Richard J H Smith Janeen L Andorf Jian Huang Kelli Ryckman Val C Sheffield Edwin M Stone Thomas Bair E Ann Black-Ziegelbein Terry A Braun Benjamin Darbro Adam P DeLuca Diana L Kolbe Todd E Scheetz Aiden E Shearer Rama Sompallae Kai Wang Alexander G Bassuk Erik Edens Katherine Mathews Steven A Moore Oleg A Shchelochkov Pamela Trapane Aaron Bossler Colleen A Campbell Jonathan W Heusel Anne Kwitek Tara Maga Karin Panzer Thomas Wassink Douglas Van Daele Hela Azaiez Kevin Booth Nic Meyer Michael M Segal Marc S Williams Gerard Tromp Peter White Donald Corsmeier Sara Fitzgerald-Butt Gail Herman Devon Lamb-Thrush Kim L McBride David Newsom Christopher R Pierson Alexander T Rakowsky Aleš Maver Luca Lovrečić Anja Palandačić Borut Peterlin Ali Torkamani Anna Wedell Mikael Huss Andrey Alexeyenko Jessica M Lindvall Måns Magnusson Daniel Nilsson Henrik Stranneheim Fulya Taylan Christian Gilissen Alexander Hoischen Bregje van Bon Helger Yntema Marcel Nelen Weidong Zhang Jason Sager Lu Zhang Kathryn Blair Deniz Kural Michael Cariaso Greg G Lennon Asif Javed Saloni Agrawal Pauline C Ng Komal S Sandhu Shuba Krishna Vamsi Veeramachaneni Ofer Isakov Eran Halperin Eitan Friedman Noam Shomron Gustavo Glusman Jared C Roach Juan Caballero Hannah C Cox Denise Mauldin Seth A Ament Lee Rowen Daniel R Richards F Anthony San Lucas Manuel L Gonzalez-Garay C Thomas Caskey Yu Bai Ying Huang Fang Fang Yan Zhang Zhengyuan Wang Jorge Barrera Juan M Garcia-Lobo Domingo González-Lamuño Javier Llorca Maria C Rodriguez Ignacio Varela Martin G Reese Francisco M De La Vega Edward Kiruluta Michele Cargill Reece K Hart Jon M Sorenson Gholson J Lyon David A Stevenson Bruce E Bray Barry M Moore Karen Eilbeck Mark Yandell Hongyu Zhao Lin Hou Xiaowei Chen Xiting Yan Mengjie Chen Cong Li Can Yang Murat Gunel Peining Li Yong Kong Austin C Alexander Zayed I Albertyn Kym M Boycott Dennis E Bulman Paul M K Gordon A Micheil Innes Bartha M Knoppers Jacek Majewski Christian R Marshall Jillian S Parboosingh Sarah L Sawyer Mark E Samuels Jeremy Schwartzentruber Isaac S Kohane David M Margulies

Genome Biol 2014 Mar 25;15(3):R53. Epub 2014 Mar 25.

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http://dx.doi.org/10.1186/gb-2014-15-3-r53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4073084PMC
March 2014

Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.

PeerJ 2013 3;1:e177. Epub 2013 Oct 3.

Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory , NY , USA ; Stony Brook University , Stony Brook, NY , USA.

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http://dx.doi.org/10.7717/peerj.177DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3792182PMC
October 2013

The development of next-generation sequencing assays for the mitochondrial genome and 108 nuclear genes associated with mitochondrial disorders.

J Mol Diagn 2013 Jul 9;15(4):526-34. Epub 2013 May 9.

Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, UT 84108, USA.

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http://dx.doi.org/10.1016/j.jmoldx.2013.03.005DOI Listing
July 2013

Evolution of the Sequence Ontology terms and relationships.

J Biomed Inform 2011 Feb 10;44(1):87-93. Epub 2010 Mar 10.

Lawrence Berkeley National Laboratory, Mail Stop 64R0121, Berkeley, CA 94720, USA.

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http://dx.doi.org/10.1016/j.jbi.2010.03.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3052763PMC
February 2011

SOBA: sequence ontology bioinformatics analysis.

Nucleic Acids Res 2010 Jul 21;38(Web Server issue):W161-4. Epub 2010 May 21.

Department of Human Genetics, University of Utah, Salt Lake City, Utah, UT 84112, USA.

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http://dx.doi.org/10.1093/nar/gkq426DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2896117PMC
July 2010

Sequence ontology annotation guide.

Comp Funct Genomics 2004 ;5(8):642-7

Department of Molecular and Cellular Biology, Life Sciences Addition, University of California, Berkeley, California 94729-3200, USA.

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http://dx.doi.org/10.1002/cfg.446DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2447471PMC
June 2010

Quantitative measures for the management and comparison of annotated genomes.

BMC Bioinformatics 2009 Feb 23;10:67. Epub 2009 Feb 23.

Department of Human genetics, Eccles Institute of Human Genetics, University of Utah and School of Medicine, Salt Lake City, UT, USA.

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http://dx.doi.org/10.1186/1471-2105-10-67DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2653490PMC
February 2009

The Sequence Ontology: a tool for the unification of genome annotations.

Genome Biol 2005 29;6(5):R44. Epub 2005 Apr 29.

Department of Molecular and Cellular Biology, Life Sciences Addition, University of California, Berkeley, CA 94729-3200, USA.

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http://dx.doi.org/10.1186/gb-2005-6-5-r44DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1175956PMC
May 2006