Shared genomics: A platform for emerging interpretation of genetic epidemiology

David Hoyle; Mark Delderfield; Lee Kitching; Gareth Smith; Peter Crowther; Iain Buchan

doi:10.1109/CBMS.2009.5255387

Shared genomics: A platform for emerging interpretation of genetic epidemiology

David Hoyle, Mark Delderfield, Lee Kitching, Gareth Smith, Peter Crowther, Iain Buchan

Division of Informatics, Imaging & Data Sciences (L5)

Research output: Chapter in Book/Conference proceeding › Conference contribution › peer-review

Abstract

The study of the genetics of diseases has been revolutionised by the advent of genome-wide genotyping technologies. Increasingly, genome-wide association studies are being used to identify positions within the human genome that have a link with a disease condition. These new data sets require the use of distributed resources, both for the statistical analysis and for the interpretation of the analysis results. Aiding the latter will be be crucial for the statistical analysis process to be successful. In this paper we report our experiences in developing a user-friendly High Performance Computing (HPC) statistical genetics analysis platform for use by clinical researchers. Specifically, we report work on supporting the interpretation process through the automatic annotation of the statistical analysis results with relevant biological information. Retrieval of the biological annotation is performed by high-volume invocation of multiple web-services orchestrated via pre-existing scientific workflows. We also report work on developing tools to aid the capture and replay of the processes performed by a user when exploring analysis results. © 2009 IEEE.

Original language	English
Title of host publication	Proceedings - IEEE Symposium on Computer-Based Medical Systems\|Proc. IEEE Symp. Comput.-Based Med. Syst.
Publisher	IEEE
ISBN (Print)	9781424448784
DOIs	https://doi.org/10.1109/CBMS.2009.5255387
Publication status	Published - 2009
Event	2009 22nd IEEE International Symposium on Computer-Based Medical Systems, CBMS 2009 - Albuquerque, NM Duration: 1 Jul 2009 → …

Conference

Conference	2009 22nd IEEE International Symposium on Computer-Based Medical Systems, CBMS 2009
City	Albuquerque, NM
Period	1/07/09 → …

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10.1109/CBMS.2009.5255387

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title = "Shared genomics: A platform for emerging interpretation of genetic epidemiology",

abstract = "The study of the genetics of diseases has been revolutionised by the advent of genome-wide genotyping technologies. Increasingly, genome-wide association studies are being used to identify positions within the human genome that have a link with a disease condition. These new data sets require the use of distributed resources, both for the statistical analysis and for the interpretation of the analysis results. Aiding the latter will be be crucial for the statistical analysis process to be successful. In this paper we report our experiences in developing a user-friendly High Performance Computing (HPC) statistical genetics analysis platform for use by clinical researchers. Specifically, we report work on supporting the interpretation process through the automatic annotation of the statistical analysis results with relevant biological information. Retrieval of the biological annotation is performed by high-volume invocation of multiple web-services orchestrated via pre-existing scientific workflows. We also report work on developing tools to aid the capture and replay of the processes performed by a user when exploring analysis results. {\textcopyright} 2009 IEEE.",

author = "David Hoyle and Mark Delderfield and Lee Kitching and Gareth Smith and Peter Crowther and Iain Buchan",

year = "2009",

doi = "10.1109/CBMS.2009.5255387",

language = "English",

isbn = "9781424448784",

booktitle = "Proceedings - IEEE Symposium on Computer-Based Medical Systems|Proc. IEEE Symp. Comput.-Based Med. Syst.",

publisher = "IEEE",

address = "United States",

note = "2009 22nd IEEE International Symposium on Computer-Based Medical Systems, CBMS 2009 ; Conference date: 01-07-2009",

}

Hoyle, D, Delderfield, M, Kitching, L, Smith, G, Crowther, P & Buchan, I 2009, Shared genomics: A platform for emerging interpretation of genetic epidemiology. in Proceedings - IEEE Symposium on Computer-Based Medical Systems|Proc. IEEE Symp. Comput.-Based Med. Syst.. IEEE, 2009 22nd IEEE International Symposium on Computer-Based Medical Systems, CBMS 2009, Albuquerque, NM, 1/07/09. https://doi.org/10.1109/CBMS.2009.5255387

TY - GEN

T1 - Shared genomics: A platform for emerging interpretation of genetic epidemiology

AU - Hoyle, David

AU - Delderfield, Mark

AU - Kitching, Lee

AU - Smith, Gareth

AU - Crowther, Peter

AU - Buchan, Iain

PY - 2009

Y1 - 2009

N2 - The study of the genetics of diseases has been revolutionised by the advent of genome-wide genotyping technologies. Increasingly, genome-wide association studies are being used to identify positions within the human genome that have a link with a disease condition. These new data sets require the use of distributed resources, both for the statistical analysis and for the interpretation of the analysis results. Aiding the latter will be be crucial for the statistical analysis process to be successful. In this paper we report our experiences in developing a user-friendly High Performance Computing (HPC) statistical genetics analysis platform for use by clinical researchers. Specifically, we report work on supporting the interpretation process through the automatic annotation of the statistical analysis results with relevant biological information. Retrieval of the biological annotation is performed by high-volume invocation of multiple web-services orchestrated via pre-existing scientific workflows. We also report work on developing tools to aid the capture and replay of the processes performed by a user when exploring analysis results. © 2009 IEEE.

AB - The study of the genetics of diseases has been revolutionised by the advent of genome-wide genotyping technologies. Increasingly, genome-wide association studies are being used to identify positions within the human genome that have a link with a disease condition. These new data sets require the use of distributed resources, both for the statistical analysis and for the interpretation of the analysis results. Aiding the latter will be be crucial for the statistical analysis process to be successful. In this paper we report our experiences in developing a user-friendly High Performance Computing (HPC) statistical genetics analysis platform for use by clinical researchers. Specifically, we report work on supporting the interpretation process through the automatic annotation of the statistical analysis results with relevant biological information. Retrieval of the biological annotation is performed by high-volume invocation of multiple web-services orchestrated via pre-existing scientific workflows. We also report work on developing tools to aid the capture and replay of the processes performed by a user when exploring analysis results. © 2009 IEEE.

U2 - 10.1109/CBMS.2009.5255387

DO - 10.1109/CBMS.2009.5255387

M3 - Conference contribution

SN - 9781424448784

BT - Proceedings - IEEE Symposium on Computer-Based Medical Systems|Proc. IEEE Symp. Comput.-Based Med. Syst.

PB - IEEE

T2 - 2009 22nd IEEE International Symposium on Computer-Based Medical Systems, CBMS 2009

Y2 - 1 July 2009

ER -

Shared genomics: A platform for emerging interpretation of genetic epidemiology

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