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Analyzing large-scale genomic data with cloud data lakes

Published: 22 June 2023 Publication History

Abstract

In recent years there is huge influx of genomic data and a growing need for its analysis, yet existing genomic databases do not allow easy accessibility. We developed a pipeline that continuously pre-processes raw human genetic data. The data is then stored in a cloud data lake and can be accessed via a simple and intuitive web service and API.

References

[1]
Adam Ameur, Ignas Bunikis, Stefan Enroth, and Ulf Gyllensten. 2014. CanvasDB: a local database infrastructure for analysis of targeted-and whole genome re-sequencing projects. Database 2014 (2014).
[2]
Noam Hadar, Grisha Weintraub, Ehud Gudes, Shlomi Dolev, and Ohad Birk. in press. GeniePool: Genomic Database With Corresponding Annotated Samples Based On a Cloud Data Lake Architecture. Database (in press).
[3]
Rasko Leinonen, Hideaki Sugawara, Martin Shumway, and International Nucleotide Sequence Database Collaboration. 2010. The sequence read archive. Nucleic acids research 39, suppl_1 (2010), D19--D21.
[4]
Grisha Weintraub, Ehud Gudes, and Shlomi Dolev. 2021. Needle in a haystack queries in cloud data lakes. In EDBT/ICDT Workshops.

Cited By

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  • (2024)GeniePool 2.0: advancing variant analysis through CHM13-T2T, AlphaMissense, gnomAD V4 integration, and variant co-occurrence queriesDatabase10.1093/database/baae1302024Online publication date: 27-Dec-2024

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    cover image ACM Conferences
    SYSTOR '23: Proceedings of the 16th ACM International Conference on Systems and Storage
    June 2023
    168 pages
    ISBN:9781450399623
    DOI:10.1145/3579370
    Permission to make digital or hard copies of part or all 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 third-party components of this work must be honored. For all other uses, contact the owner/author(s).

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    Association for Computing Machinery

    New York, NY, United States

    Publication History

    Published: 22 June 2023

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    Author Tags

    1. genomics
    2. cloud storage
    3. data lakes
    4. geniepool

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    • Extended-abstract

    Funding Sources

    • Israeli Council for Higher Education (CHE) via Data Science Research Center, Ben-Gurion University of the Negev, Israel

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    SYSTOR '23
    Sponsor:

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    SYSTOR '23 Paper Acceptance Rate 12 of 30 submissions, 40%;
    Overall Acceptance Rate 108 of 323 submissions, 33%

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    View all
    • (2024)GeniePool 2.0: advancing variant analysis through CHM13-T2T, AlphaMissense, gnomAD V4 integration, and variant co-occurrence queriesDatabase10.1093/database/baae1302024Online publication date: 27-Dec-2024

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