Accelerating disease gene identification through integrated SNP data analysis

Paolo Missier; Suzanne Embury; Conny Hedeler; Mark Greenwood; Joanne Pennock; Andy Brass

doi:10.1007/978-3-540-73255-6_18

Accelerating disease gene identification through integrated SNP data analysis

Paolo Missier^*, Suzanne Embury, Conny Hedeler, Mark Greenwood, Joanne Pennock, Andy Brass

^*Corresponding author for this work

Computer Science

Research output: Chapter in Book/Report/Conference proceeding › Conference contribution

Abstract

Information about small genetic variations in organisms, known as single nucleotide polymorphism (SNPs), is crucial to identify candidate genes that have a role in disease susceptibility, a long-standing research goal in biology. While a number of established public SNP databases are available, the specification of effective techniques for SNP analysis remains an open issue. We describe a secondary SNP database that integrates data from multiple public sources, designed to support various experimental ranking models for SNPs. By prioritizing SNPs within large regions of the genome, scientists are able to rapidly narrow their search for candidate genes. In the paper we describe the ranking models, the data integration architecture, and preliminary experimental results.

Original language	English
Title of host publication	Data Integration in the Life Sciences - 4th International Workshop, DILS 2007, Proceedings
Publisher	Springer Verlag
Pages	215-230
Number of pages	16
ISBN (Print)	3540732543, 9783540732549
DOIs	https://doi.org/10.1007/978-3-540-73255-6_18
Publication status	Published - 2007
Event	4th International Workshop on Data Integration in the Life Sciences, DILS 2007 - Philadelphia, PA, United States Duration: 27 Jun 2007 → 29 Jun 2007

Publication series

Name	Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics)
Volume	4544 LNBI
ISSN (Print)	0302-9743
ISSN (Electronic)	1611-3349

Conference

Conference	4th International Workshop on Data Integration in the Life Sciences, DILS 2007
Country/Territory	United States
City	Philadelphia, PA
Period	27/06/07 → 29/06/07

ASJC Scopus subject areas

Theoretical Computer Science
General Computer Science

Access to Document

10.1007/978-3-540-73255-6_18

Cite this

Missier, P., Embury, S., Hedeler, C., Greenwood, M., Pennock, J., & Brass, A. (2007). Accelerating disease gene identification through integrated SNP data analysis. In Data Integration in the Life Sciences - 4th International Workshop, DILS 2007, Proceedings (pp. 215-230). (Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics); Vol. 4544 LNBI). Springer Verlag. https://doi.org/10.1007/978-3-540-73255-6_18

Missier, Paolo ; Embury, Suzanne ; Hedeler, Conny et al. / Accelerating disease gene identification through integrated SNP data analysis. Data Integration in the Life Sciences - 4th International Workshop, DILS 2007, Proceedings. Springer Verlag, 2007. pp. 215-230 (Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics)).

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title = "Accelerating disease gene identification through integrated SNP data analysis",

abstract = "Information about small genetic variations in organisms, known as single nucleotide polymorphism (SNPs), is crucial to identify candidate genes that have a role in disease susceptibility, a long-standing research goal in biology. While a number of established public SNP databases are available, the specification of effective techniques for SNP analysis remains an open issue. We describe a secondary SNP database that integrates data from multiple public sources, designed to support various experimental ranking models for SNPs. By prioritizing SNPs within large regions of the genome, scientists are able to rapidly narrow their search for candidate genes. In the paper we describe the ranking models, the data integration architecture, and preliminary experimental results.",

author = "Paolo Missier and Suzanne Embury and Conny Hedeler and Mark Greenwood and Joanne Pennock and Andy Brass",

year = "2007",

doi = "10.1007/978-3-540-73255-6_18",

language = "English",

isbn = "3540732543",

series = "Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics)",

publisher = "Springer Verlag",

pages = "215--230",

booktitle = "Data Integration in the Life Sciences - 4th International Workshop, DILS 2007, Proceedings",

note = "4th International Workshop on Data Integration in the Life Sciences, DILS 2007 ; Conference date: 27-06-2007 Through 29-06-2007",

}

Missier, P, Embury, S, Hedeler, C, Greenwood, M, Pennock, J & Brass, A 2007, Accelerating disease gene identification through integrated SNP data analysis. in Data Integration in the Life Sciences - 4th International Workshop, DILS 2007, Proceedings. Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics), vol. 4544 LNBI, Springer Verlag, pp. 215-230, 4th International Workshop on Data Integration in the Life Sciences, DILS 2007, Philadelphia, PA, United States, 27/06/07. https://doi.org/10.1007/978-3-540-73255-6_18

Accelerating disease gene identification through integrated SNP data analysis. / Missier, Paolo; Embury, Suzanne; Hedeler, Conny et al.
Data Integration in the Life Sciences - 4th International Workshop, DILS 2007, Proceedings. Springer Verlag, 2007. p. 215-230 (Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics); Vol. 4544 LNBI).

Research output: Chapter in Book/Report/Conference proceeding › Conference contribution

TY - GEN

T1 - Accelerating disease gene identification through integrated SNP data analysis

AU - Missier, Paolo

AU - Embury, Suzanne

AU - Hedeler, Conny

AU - Greenwood, Mark

AU - Pennock, Joanne

AU - Brass, Andy

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Y1 - 2007

N2 - Information about small genetic variations in organisms, known as single nucleotide polymorphism (SNPs), is crucial to identify candidate genes that have a role in disease susceptibility, a long-standing research goal in biology. While a number of established public SNP databases are available, the specification of effective techniques for SNP analysis remains an open issue. We describe a secondary SNP database that integrates data from multiple public sources, designed to support various experimental ranking models for SNPs. By prioritizing SNPs within large regions of the genome, scientists are able to rapidly narrow their search for candidate genes. In the paper we describe the ranking models, the data integration architecture, and preliminary experimental results.

AB - Information about small genetic variations in organisms, known as single nucleotide polymorphism (SNPs), is crucial to identify candidate genes that have a role in disease susceptibility, a long-standing research goal in biology. While a number of established public SNP databases are available, the specification of effective techniques for SNP analysis remains an open issue. We describe a secondary SNP database that integrates data from multiple public sources, designed to support various experimental ranking models for SNPs. By prioritizing SNPs within large regions of the genome, scientists are able to rapidly narrow their search for candidate genes. In the paper we describe the ranking models, the data integration architecture, and preliminary experimental results.

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U2 - 10.1007/978-3-540-73255-6_18

DO - 10.1007/978-3-540-73255-6_18

M3 - Conference contribution

AN - SCOPUS:34547418592

SN - 3540732543

SN - 9783540732549

T3 - Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics)

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BT - Data Integration in the Life Sciences - 4th International Workshop, DILS 2007, Proceedings

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ER -

Missier P, Embury S, Hedeler C, Greenwood M, Pennock J, Brass A. Accelerating disease gene identification through integrated SNP data analysis. In Data Integration in the Life Sciences - 4th International Workshop, DILS 2007, Proceedings. Springer Verlag. 2007. p. 215-230. (Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics)). doi: 10.1007/978-3-540-73255-6_18

Accelerating disease gene identification through integrated SNP data analysis

Abstract

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Conference

ASJC Scopus subject areas

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