Karen Eilbeck: search on Z-Library

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1

Settling the score: variant prioritization and Mendelian disease

Eilbeck, Karen, Quinlan, Aaron, Yandell, Mark

Journal:

Nature Reviews Genetics

Year:

2017

Language:

english

File:

PDF, 529 KB

english, 2017

2

The OBO Foundry: coordinated evolution of ontologies to support biomedical data integration

Ceusters, Werner, Goldberg, Louis J, Eilbeck, Karen, Ireland, Amelia, Mungall, Christopher J, Smith, Barry, Ashburner, Michael, Rosse, Cornelius, Bard, Jonathan, Bug, William

Journal:

Nature Biotechnology

Year:

2007

Language:

english

File:

PDF, 211 KB

english, 2007

3

Unbiased Detection of Respiratory Viruses Using RNA-seq-Based Metagenomics: A Systematic Comparison to A Commercial PCR Panel

Graf, Erin H., Simmon, Keith E., Tardif, Keith D., Hymas, Weston, Flygare, Steven, Eilbeck, Karen, Yandell, Mark, Schlaberg, Robert

Journal:

Journal of Clinical Microbiology

Year:

2016

Language:

english

File:

PDF, 1.51 MB

english, 2016

4

Principles and Recommendations for Standardizing the Use of the Next-Generation Sequencing Variant File in Clinical Settings

Lubin, Ira M., Aziz, Nazneen, Babb, Lawrence J., Ballinger, Dennis, Bisht, Himani, Church, Deanna M., Cordes, Shaun, Eilbeck, Karen, Hyland, Fiona, Kalman, Lisa, Landrum, Melissa, Lockhart, Edward R.,

Journal:

The Journal of Molecular Diagnostics

Year:

2017

Language:

english

File:

PDF, 1.54 MB

english, 2017

5

Redefining fundamental concepts of transcription initiation in bacteria

MejÃa-Almonte, Citlalli, Busby, Stephen J. W., Wade, Joseph T., van Helden, Jacques, Arkin, Adam P., Stormo, Gary D., Eilbeck, Karen, Palsson, Bernhard O., Galagan, James E., Collado-Vides, Julio

Journal:

Nature Reviews Genetics

Year:

2020

File:

PDF, 1.94 MB

2020

6

The VAAST Variant Prioritizer (VVP): ultrafast, easy to use whole genome variant prioritization tool

Flygare, Steven, Hernandez, Edgar Javier, Phan, Lon, Moore, Barry, Li, Man, Fejes, Anthony, Hu, Hao, Eilbeck, Karen, Huff, Chad, Jorde, Lynn, G. Reese, Martin, Yandell, Mark

Journal:

BMC Bioinformatics

Year:

2018

Language:

english

File:

PDF, 1.07 MB

english, 2018

7

The Development of Next-Generation Sequencing Assays for the Mitochondrial Genome and 108 Nuclear Genes Associated with Mitochondrial Disorders

Dames, Shale, Chou, Lan-Szu, Xiao, Ye, Wayman, Tyler, Stocks, Jennifer, Singleton, Marc, Eilbeck, Karen, Mao, Rong

Journal:

The Journal of Molecular Diagnostics

Year:

2013

Language:

english

File:

PDF, 522 KB

english, 2013

8

Shared Genetic Variants Among Streptococcus pneumoniae Isolates Causing Complicated Pneumonia and Empyema in Children

Osborne, Edward, Blaschke, Anne J., Ampofo, Krow, Crandall, Hillary, Killpack, Jarrett, Stockmann, Chris R., Farrell, Andrew P., Fischer, Kael F, Pavia, Andrew, Eilbeck, Karen, Schlaberg, Robert, Yand

Journal:

Open Forum Infectious Diseases

Year:

2015

Language:

english

File:

PDF, 46 KB

english, 2015

9

ClinVar miner: Demonstrating utility of a web-based tool for viewing and filtering clinvar data

Henrie, Alex, Hemphill, Sarah E., Ruiz-Schultz, Nicole, Cushman, Brandon, DiStefano, Marina T., Azzariti, Danielle, Harrison, Steven M., Rehm, Heidi L., Eilbeck, Karen

Journal:

Year:

2018

Language:

english

File:

PDF, 1.45 MB

english, 2018

10

Improving the Sequence Ontology terminology for genomic variant annotation

Cunningham, Fiona, Moore, Barry, Ruiz-Schultz, Nicole, Ritchie, Graham RS, Eilbeck, Karen

Journal:

Journal of Biomedical Semantics

Year:

2015

Language:

english

File:

PDF, 887 KB

english, 2015

11

The RNA Ontology (RNAO): An ontology for integrating RNA sequence and structure data

Batchelor, Colin, Bittner, Thomas, Eilbeck, Karen, Mungall, Chris, Richardson, Jane, Knight, Rob, Stombaugh, Jesse, Zirbel, Craig, Westhof, Eric, Leontis, Neocles

Journal:

Nature Precedings

Year:

2009

Language:

english

File:

PDF, 377 KB

english, 2009

12

Evolution of the Sequence Ontology terms and relationships

Christopher J. Mungall, Colin Batchelor, Karen Eilbeck

Journal:

Journal of Biomedical Informatics

Year:

2011

Language:

english

File:

PDF, 567 KB

english, 2011

13

3399 Systematically Integrating Microbiomes and Exposomes for Translational Research

Gouripeddi, Ram, Miller, Andrew, Eilbeck, Karen, Sward, Katherine, Facelli, Julio C.

Journal:

Journal of Clinical and Translational Science

Year:

2019

File:

PDF, 60 KB

2019

14

The Non-Coding RNA Ontology (NCRO): a comprehensive resource for the unification of non-coding RNA biology

Huang, Jingshan, Eilbeck, Karen, Smith, Barry, Blake, Judith A., Dou, Dejing, Huang, Weili, Natale, Darren A., Ruttenberg, Alan, Huan, Jun, Zimmermann, Michael T., Jiang, Guoqian, Lin, Yu, Wu, Bin, St

Journal:

Journal of Biomedical Semantics

Year:

2016

Language:

english

File:

PDF, 2.44 MB

english, 2016

15

OmniSearch: a semantic search system based on the Ontology for MIcroRNA Target (OMIT) for microRNA-target gene interaction data

Huang, Jingshan, Gutierrez, Fernando, Strachan, Harrison J., Dou, Dejing, Huang, Weili, Smith, Barry, Blake, Judith A., Eilbeck, Karen, Natale, Darren A., Lin, Yu, Wu, Bin, Silva, Nisansa de, Wang, Xi

Journal:

Journal of Biomedical Semantics

Year:

2016

Language:

english

File:

PDF, 2.17 MB

english, 2016

16

[IEEE 2015 IEEE International Conference on Bioinformatics and Biomedicine (BIBM) - Washington, DC, USA (2015.11.9-2015.11.12)] 2015 IEEE International Conference on Bioinformatics and Biomedicine (BIBM) - A semantic approach for knowledge capture of MIcroRNA-Target gene interactions

Huang, Jingshan, Gutierrez, Fernando, Dou, Dejing, Blake, Judith A., Eilbeck, Karen, Natale, Darren A., Smith, Barry, Yu Lin,, Wang, Xiaowei, Liu, Zixing, Tan, Ming, Ruttenberg, Alan

Year:

2015

Language:

english

File:

PDF, 1.45 MB

english, 2015

17

Evolution of the Sequence Ontology terms and relationships

Eilbeck, Karen, Mungall, Christopher

Journal:

Bioentrepreneur

Year:

2009

Language:

english

File:

PDF, 140 KB

english, 2009

18

3339 Development of a Competency-based Informatics Course for Translational Researchers

Gouripeddi, Ram, Groat, Danielle, Abdelrahman, Samir E., Cheatham, Tom, Cummins, Mollie, Eilbeck, Karen, LaSalle, Bernie, Sward, Katherine, Facelli, Julio C.

Journal:

Journal of Clinical and Translational Science

Year:

2019

Language:

english

File:

PDF, 59 KB

english, 2019

19

[IEEE 2017 IEEE 7th International Conference on Computational Advances in Bio and Medical Sciences (ICCABS) - Orlando, FL, USA (2017.10.19-2017.10.21)] 2017 IEEE 7th International Conference on Computational Advances in Bio and Medical Sciences (ICCABS) - Semantics-oriented data science and computational life sciences: Innovative application of semantic technologies in microRNA and lncRNA research

Huang, Jingshan, Dou, Dejing, Tan, Ming, Borchert, Glen M., Eilbeck, Karen, Ruttenberg, Alan, Yang, Ping

Year:

2017

Language:

english

File:

PDF, 360 KB

english, 2017

20

The RNA Ontology (RNAO): An ontology for integrating RNA sequence and structure data

Batchelor, Colin, Bittner, Thomas, Eilbeck, Karen, Mungall, Chris, Richardson, Jane, Knight, Rob, Stombaugh, Jesse, Zirbel, Craig, Westhof, Eric, Leontis, Neocles

Journal:

Nature Precedings

Year:

2009

File:

PDF, 377 KB

2009

21

OMIT: Dynamic, Semi-Automated Ontology Development for the microRNA Domain

Huang, Jingshan, Dang, Jiangbo, Borchert, Glen M., Eilbeck, Karen, Zhang, He, Xiong, Min, Jiang, Weijian, Wu, Hao, Blake, Judith A., Natale, Darren A., Tan, Ming, Fraternali, Franca

Journal:

Year:

2014

Language:

english

File:

PDF, 3.79 MB

english, 2014

22

Unification of miRNA and isomiR research: the mirGFF3 format and the mirtop API

Desvignes, Thomas, Loher, Phillipe, Eilbeck, Karen, Ma, Jeffery, Urgese, Gianvito, Fromm, Bastian, Sydes, Jason, Aparicio-Puerta, Ernesto, Barrera, Victor, Espín, Roderic, Thibord, Florian, Ros, Xavie

Journal:

Year:

2019

Language:

english

File:

PDF, 317 KB

english, 2019

23

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

Karen Eilbeck, Suzanna E Lewis, Christopher J Mungall, Mark Yandell…

Journal:

Year:

2005

Language:

english

File:

PDF, 299 KB

english, 2005

24

Evolution of the Sequence Ontology terms and relationships

Eilbeck, Karen, Mungall, Christopher

Journal:

Bioentrepreneur

Year:

2009

File:

PDF, 140 KB

2009

25

3399 Systematically Integrating Microbiomes and Exposomes for Translational Research

Gouripeddi, Ram, Miller, Andrew, Eilbeck, Karen, Sward, Katherine, Facelli, Julio C.

Journal:

Journal of Clinical and Translational Science

Year:

2019

Language:

english

File:

PDF, 60 KB

english, 2019

26

Sequence Ontology annotation guide

Karen Eilbeck, Suzanna E. Lewis

Journal:

Comparative and Functional Genomics

Year:

2004

Language:

english

File:

PDF, 221 KB

english, 2004

27

The genomic CDS sandbox: An assessment among domain experts

Aziz, Ayesha, Kawamoto, Kensaku, Eilbeck, Karen, Williams, Marc S., Freimuth, Robert R., Hoffman, Mark A., Rasmussen, Luke V., Overby, Casey L., Shirts, Brian H., Hoffman, James M., Welch, Brandon M.

Journal:

Journal of Biomedical Informatics

Year:

2016

Language:

english

File:

PDF, 1.27 MB

english, 2016

28

[IEEE 2013 46th Hawaii International Conference on System Sciences (HICSS) - Wailea, HI, USA (2013.01.7-2013.01.10)] 2013 46th Hawaii International Conference on System Sciences - Optimize Querying of LOINC® with an Ontology: Give Me the Chlamydia Tests the Epidemiologists Want Me to Use!

Eilbeck, Karen, Jacobs, Jason, Staes, Catherine Janes

Year:

2013

Language:

english

File:

PDF, 755 KB

english, 2013

29

Phevor Combines Multiple Biomedical Ontologies for Accurate Identification of Disease-Causing Alleles in Single Individuals and Small Nuclear Families

Singleton, Marc V., Guthery, Stephen L., Voelkerding, Karl V., Chen, Karin, Kennedy, Brett, Margraf, Rebecca L., Durtschi, Jacob, Eilbeck, Karen, Reese, Martin G., Jorde, Lynn B., Huff, Chad D., Yande

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.21 MB

english, 2014

30

4549 Reproducible Informatics for Reproducible Translational Research

Gouripeddi, Ram, Sward, Katherine, Cummins, Mollie, Eilbeck, Karen, LaSalle, Bernie, Facelli, Julio C.

Journal:

Journal of Clinical and Translational Science

Year:

2020

File:

PDF, 60 KB

2020

31

Quantitative measures for the management and comparison of annotated genomes

Karen Eilbeck, Barry Moore, Carson Holt, Mark Yandell

Journal:

BMC Bioinformatics

Year:

2009

Language:

english

File:

PDF, 1.51 MB

english, 2009

32

Human Bocavirus Capsid mRNA Detection In Children With Pneumonia

Schlaberg, Robert, Ampofo, Krow, Tardif, Keith D, Stockmann, Chris, Simmon, Keith E, Hymas, Weston, Flygare, Steven, Kennedy, Brett, Blaschke, Anne, Eilbeck, Karen, Yandell, Mark, McCullers, Jon A, Wi

Journal:

The Journal of Infectious Diseases

Year:

2017

Language:

english

File:

PDF, 766 KB

english, 2017

33

A Proposed Clinical Decision Support Architecture Capable of Supporting Whole Genome Sequence Information

Welch, Brandon, Loya, Salvador, Eilbeck, Karen, Kawamoto, Kensaku

Journal:

Journal of Personalized Medicine

Year:

2014

Language:

english

File:

PDF, 629 KB

english, 2014

34

The development of non-coding RNA ontology

Huang, Jingshan, Eilbeck, Karen, Smith, Barry, Blake, Judith A., Dou, Dejing, Huang, Weili, Natale, Darren A., Ruttenberg, Alan, Huan, Jun, Zimmermann, Michael T., Jiang, Guoqian, Lin, Yu, Wu, Bin, St

Journal:

International Journal of Data Mining and Bioinformatics

Year:

2016

Language:

english

File:

PDF, 932 KB

english, 2016

35

Viral Pathogen Detection by Metagenomics and Pan Viral Group PCR in Children with Pneumonia Lacking Identifiable Etiology

Schlaberg, Robert, Queen, Krista, Simmon, Keith, Tardif, Keith, Stockmann, Chris, Flygare, Steven, Kennedy, Brett, Voelkerding, Karl, Bramley, Anna, Zhang, Jing, Eilbeck, Karen, Yandell, Mark, Jain, S

Journal:

The Journal of Infectious Diseases

Year:

2017

Language:

english

File:

PDF, 623 KB

english, 2017

36

[IEEE 2015 IEEE International Conference on Bioinformatics and Biomedicine (BIBM) - Washington, DC, USA (2015.11.9-2015.11.12)] 2015 IEEE International Conference on Bioinformatics and Biomedicine (BIBM) - A domain ontology for the Non-Coding RNA field

Huang, Jingshan, Eilbeck, Karen, Blake, Judith A., Dou, Dejing, Natale, Darren A., Ruttenberg, Alan, Smith, Barry, Zimmermann, Michael T., Guoqian Jiang,, Yu Lin,, Bin Wu,, Yongqun He,, Shaojie Zh

Year:

2015

Language:

english

File:

PDF, 618 KB

english, 2015

37

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

Welch, Brandon M., Eilbeck, Karen, Fiol, Guilherme Del, Meyer, Laurence J., Kawamoto, Kensaku

Journal:

Journal of Biomedical Informatics

Year:

2014

Language:

english

File:

PDF, 261 KB

english, 2014

38

3339 Development of a Competency-based Informatics Course for Translational Researchers

Gouripeddi, Ram, Groat, Danielle, Abdelrahman, Samir E., Cheatham, Tom, Cummins, Mollie, Eilbeck, Karen, LaSalle, Bernie, Sward, Katherine, Facelli, Julio C.

Journal:

Journal of Clinical and Translational Science

Year:

2019

File:

PDF, 59 KB

2019

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