Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Bret S E, Heale"'
Autor:
Robert Dolin, Bret S. E. Heale, Rohan Gupta, Carla Alvarez, Justin Aronson, Aziz Boxwala, Shaileshbhai R. Gothi, Ammar Husami, James Shalaby, Lawrence Babb, Alex Wagner, Srikar Chamala
Publikováno v:
Learning Health Systems, Vol 7, Iss 4, Pp n/a-n/a (2023)
Abstract Introduction Variant annotation is a critical component in next‐generation sequencing, enabling a sequencing lab to comb through a sea of variants in order to hone in on those likely to be most significant, and providing clinicians with ne
Externí odkaz:
https://doaj.org/article/47ebe2ec882044c085f656c5fc83dd54
Autor:
Robert H. Dolin, Shaileshbhai R. Gothi, Aziz Boxwala, Bret S. E. Heale, Ammar Husami, James Jones, Himanshu Khangar, Shubham Londhe, Frank Naeymi-Rad, Soujanya Rao, Barbara Rapchak, James Shalaby, Varun Suraj, Ning Xie, Srikar Chamala, Gil Alterovitz
Publikováno v:
BMC Bioinformatics, Vol 22, Iss 1, Pp 1-11 (2021)
Abstract Background VCF formatted files are the lingua franca of next-generation sequencing, whereas HL7 FHIR is emerging as a standard language for electronic health record interoperability. A growing number of FHIR-based clinical genomics applicati
Externí odkaz:
https://doaj.org/article/99d9ca08a72249798090ee08fc5ab9d3
Autor:
Robert H, Dolin, Bret S E, Heale, Gil, Alterovitz, Rohan, Gupta, Justin, Aronson, Aziz, Boxwala, Shaileshbhai R, Gothi, David, Haines, Arthur, Hermann, Tonya, Hongsermeier, Ammar, Husami, James, Jones, Frank, Naeymi-Rad, Barbara, Rapchak, Chandan, Ravishankar, James, Shalaby, May, Terry, Ning, Xie, Powell, Zhang, Srikar, Chamala
Publikováno v:
Journal of the American Medical Informatics Association. 30:485-493
ObjectiveEnabling clinicians to formulate individualized clinical management strategies from the sea of molecular data remains a fundamentally important but daunting task. Here, we describe efforts towards a new paradigm in genomics-electronic health
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4549b553c851c1e0c6d69758907c16e4
https://doi.org/10.1093/jamia/ocac246
https://doi.org/10.1093/jamia/ocac246
Publikováno v:
BMC Medical Informatics and Decision Making, Vol 17, Iss 1, Pp 1-10 (2017)
Abstract Background Genetic testing, especially in pharmacogenomics, can have a major impact on patient care. However, most physicians do not feel that they have sufficient knowledge to apply pharmacogenomics to patient care. Online information resou
Externí odkaz:
https://doaj.org/article/481d3ea690814c0aa72fd3d98690fe6f
Autor:
Bret S. E. Heale, Shuanghu Liu, Don A. Delker, Neven Papic, Christopher I. Maxwell, Curt H. Hagedorn
Publikováno v:
Viruses, Vol 4, Iss 4, Pp 581-612 (2012)
We describe the first report of RNA sequencing of 5' capped (Pol II) RNAs isolated from acutely hepatitis C virus (HCV) infected Huh 7.5 cells that provides a general approach to identifying differentially expressed annotated and unannotated genes th
Externí odkaz:
https://doaj.org/article/21c063c461194364902b8cd85a1566aa
Autor:
Bret S. E. Heale, Ning Xie, Shubham Londhe, Himanshu Khangar, Frank Naeymi-Rad, Robert H. Dolin, Barbara Rapchak, James Jones, Varun Suraj, Soujanya Rao, Aziz A. Boxwala, James Shalaby, Shaileshbhai Revabhai Gothi, Srikar Chamala, Gil Alterovitz, Ammar Husami
Publikováno v:
BMC Bioinformatics, Vol 22, Iss 1, Pp 1-11 (2021)
BMC Bioinformatics
BMC Bioinformatics
Background VCF formatted files are the lingua franca of next-generation sequencing, whereas HL7 FHIR is emerging as a standard language for electronic health record interoperability. A growing number of FHIR-based clinical genomics applications are e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b60ba789fa85d15c9d382b0734ef0351
https://doi.org/10.1186/s12859-021-04039-1
https://doi.org/10.1186/s12859-021-04039-1
Publikováno v:
Journal of Biomedical Informatics. 74:10-19
Display Omitted Infobuttons are links to relevant knowledge resources within clinical systems.We reviewed technical approaches for the design and implementation of infobuttons.Health Level 7 Infobutton standard enabled wide adoption of infobutton fun
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdd211dd61d9f2ab874184f2fafa345a
https://doi.org/10.1016/j.jbi.2017.08.010
https://doi.org/10.1016/j.jbi.2017.08.010
Autor:
Guilherme Del Fiol, Marc S. Williams, Donna Maglott, Casey Lynnette Overby, Tristan Nelson, Bret S. E. Heale, Robert R. Freimuth, Christa Lese Martin, Wendy S. Rubinstein, Scott R. Goehringer, Aleksandar Milosavljevic
Publikováno v:
Applied Clinical Informatics. :817-831
SummaryThe Clinical Genome Resource (ClinGen) Electronic Health Record (EHR) Workgroup aims to integrate ClinGen resources with EHRs. A promising option to enable this integration is through the Health Level Seven (HL7) Infobutton Standard. EHR syste
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0150ae73248b58067c1bb7817ca202e
https://doi.org/10.4338/aci-2016-04-ra-0058
https://doi.org/10.4338/aci-2016-04-ra-0058
Autor:
Ian M. Overton, Jeremy A. Owen, Bret S E Heale, Erola Pairo-Castineira, Abdelkader Essafi, Matthew J. Ford, Andrew H. Sims, Alexander L. R. Lubbock
Publikováno v:
Cancers, Vol 12, Iss 2823, p 2823 (2020)
overton, I, Sims, A, Owen, J, Heale, B, Ford, M, Lubbock, A, Pairo-Castineira, E & Essafi, A 2020, ' Functional Transcription Factor Target Networks Illuminate Control of Epithelial Remodelling ', Cancers, vol. 12, no. 10, 2823 . https://doi.org/10.3390/cancers12102823
Cancers
Volume 12
Issue 10
Overton, I M, Sims, A H, Owen, J A, Heale, B S E, Ford, M J, Lubbock, A L R, Pairo-Castineira, E & Essafi, A 2020, ' Functional Transcription Factor Target Networks Illuminate Control of Epithelial Remodelling ', Cancers, vol. 12, no. 10, 2823 . https://doi.org/10.3390/cancers12102823
Overton, I, Sims, A H, A. Owen, J, S. E Heale, B, Ford, M J, Lubbock, A, Pairo-Castineira, E & Essafi, A 2020, ' Functional Transcription Factor Target Networks Illuminate Control of Epithelial Remodelling ', Cancers . https://doi.org/10.3390/cancers12102823
overton, I, Sims, A, Owen, J, Heale, B, Ford, M, Lubbock, A, Pairo-Castineira, E & Essafi, A 2020, ' Functional Transcription Factor Target Networks Illuminate Control of Epithelial Remodelling ', Cancers, vol. 12, no. 10, 2823 . https://doi.org/10.3390/cancers12102823
Cancers
Volume 12
Issue 10
Overton, I M, Sims, A H, Owen, J A, Heale, B S E, Ford, M J, Lubbock, A L R, Pairo-Castineira, E & Essafi, A 2020, ' Functional Transcription Factor Target Networks Illuminate Control of Epithelial Remodelling ', Cancers, vol. 12, no. 10, 2823 . https://doi.org/10.3390/cancers12102823
Overton, I, Sims, A H, A. Owen, J, S. E Heale, B, Ford, M J, Lubbock, A, Pairo-Castineira, E & Essafi, A 2020, ' Functional Transcription Factor Target Networks Illuminate Control of Epithelial Remodelling ', Cancers . https://doi.org/10.3390/cancers12102823
Cell identity is governed by gene expression, regulated by transcription factor (TF) binding at cis-regulatory modules. Decoding the relationship between TF binding patterns and gene regulation is nontrivial, remaining a fundamental limitation in und
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3eccfd0e66fe9613a01944d2f44cdf4b
https://doi.org/10.3390/cancers12102823
https://doi.org/10.3390/cancers12102823
Autor:
Alexander L. R. Lubbock, Andrew H. Sims, Jeremy A. Owen, Matthew J. Ford, Ian M. Overton, Bret S E Heale, Erola Pairo-Castineira, Abdelkader Essafi
Cell identity is governed by gene expression, regulated by Transcription Factor (TF) binding at cis-regulatory modules. Decoding the relationship between patterns of TF binding and the regulation of cognate target genes is nontrivial, remaining a fun
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ac20842375289d4d33a4043467d6eeb
