Nothing Special   »   [go: up one dir, main page]

skip to main content
10.1145/3269206.3269217acmconferencesArticle/Chapter ViewAbstractPublication PagescikmConference Proceedingsconference-collections
research-article

Demonstration of GenoMetric Query Language

Published: 17 October 2018 Publication History

Abstract

In the last ten years, genomic computing has made gigantic steps due to Next Generation Sequencing (NGS), a high-throughput, massively parallel technology; the cost of producing a complete human sequence dropped to 1000 US$ in 2015 and is expected to drop below 100 US$ by 2020. Several new methods have recently become available for extracting heterogeneous datasets from the genome, revealing data signals such as variations from a reference sequence, levels of expression of coding regions, or protein binding enrichments ('peaks') with their statistical or geometric properties. Huge collections of such datasets are made available by large international consortia.
In this new context, we developed GenoMetric Query Language (GMQL), a new data extraction and integration language. GMQL supports queries over thousands of heterogeneous datasets; as such, it is key to genomic data analysis. GMQL queries are executed on the cloud, after being translated and optimized; our best deployment uses Spark over Hadoop. Datasets are described by the Genomic Data Model (GDM), which provides interoperability between many data formats; GDM combines abstractions for genomic region data with the associated experimental, biological and clinical metadata.
GMQL is targeted to the bio-informatics community for facilitating data exploration and for integrating data extraction and data analysis; this demonstration highlights its usability and expressive power. We show GMQL at work from a Web-based user interface and from a language embedding (Python).

References

[1]
V. Bafna et al. Abstractions for genomics. CACM, 56(1):83--93 (2013).
[2]
ENCODE Project Consortium. An integrated encyclopedia of DNA elements in the human genome. Nature, 489(7414):57--74 (2012).
[3]
W. J. Kent et al. The Human Genome Browser at UCSC, Genome Res, 12(6):996--1006 (2002).
[4]
A. Kaitoua et al. Framework for supporting genomic operations IEEE-TC, 66(3):443--457 (2017).
[5]
M. Masseroli et al. GenoMetric Query Language: A novel approach to large-scale genomic data management. Bioinformatics, 31(12):1881--1888 (2015).
[6]
M. Masseroli, et al. Modeling and interoperability of heterogeneous genomic big data for integrative processing and querying. Methods, 1;111:3--11 (2016).
[7]
L. D. Stein. The case for cloud computing in genome informatics. Genome Biol, 11(5):207 (2010).
[8]
S. Tata et al. Declarative querying for biological sequences. In Proc. IEEE ICDE 87:99 (2006).
[9]
X. Zhu, et al. START: a system for flexible analysis of hundreds of genomic signal tracks in few lines of SQL-like queries. BMC Genomics, 18(1):749 (2017).
[10]
J. N. Weinstein et al. The Cancer Genome Atlas Pan-Cancer analysis project. Nat Genet., 45(10):1113--1120 (2013).

Recommendations

Comments

Please enable JavaScript to view thecomments powered by Disqus.

Information & Contributors

Information

Published In

cover image ACM Conferences
CIKM '18: Proceedings of the 27th ACM International Conference on Information and Knowledge Management
October 2018
2362 pages
ISBN:9781450360142
DOI:10.1145/3269206
Permission to make digital or hard copies of all or part of this work for personal or classroom use is granted without fee provided that copies are not made or distributed for profit or commercial advantage and that copies bear this notice and the full citation on the first page. Copyrights for components of this work owned by others than the author(s) must be honored. Abstracting with credit is permitted. To copy otherwise, or republish, to post on servers or to redistribute to lists, requires prior specific permission and/or a fee. Request permissions from [email protected].

Sponsors

Publisher

Association for Computing Machinery

New York, NY, United States

Publication History

Published: 17 October 2018

Permissions

Request permissions for this article.

Check for updates

Author Tags

  1. genomic data management
  2. query language

Qualifiers

  • Research-article

Funding Sources

Conference

CIKM '18
Sponsor:

Acceptance Rates

CIKM '18 Paper Acceptance Rate 147 of 826 submissions, 18%;
Overall Acceptance Rate 1,861 of 8,427 submissions, 22%

Upcoming Conference

CIKM '25

Contributors

Other Metrics

Bibliometrics & Citations

Bibliometrics

Article Metrics

  • 0
    Total Citations
  • 133
    Total Downloads
  • Downloads (Last 12 months)15
  • Downloads (Last 6 weeks)2
Reflects downloads up to 19 Nov 2024

Other Metrics

Citations

View Options

Login options

View options

PDF

View or Download as a PDF file.

PDF

eReader

View online with eReader.

eReader

Media

Figures

Other

Tables

Share

Share

Share this Publication link

Share on social media