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10.1145/3079452.3079477acmotherconferencesArticle/Chapter ViewAbstractPublication PagesdhConference Proceedingsconference-collections
abstract

GENOMEVIEWER: An Interactive Genomic Somatic Mutation Visualizer.

Published: 02 July 2017 Publication History

Abstract

New Generation Sequencing (NGS) technologies offer new insights to researchers in the field of oncogenomics. These technologies provide valuable genetic information by rapidly detecting and identifying expected mutations to improve clinical treatments. To be used effectively, this large amount of data has to be processed, explored and interpreted carefully and quickly. Meanwhile, cancer research continues to publish new theories and findings based on large-scale collaborative projects that provide publicly available genomic and clinical cancer data. However, researchers have a hard time using the data to its full potential although it's readily available. Between the growing output size and complexity of NGS technologies, and the growing number of publicly available heterogeneous databases, processing and exploring this data can become a challenge for the average researcher. This paper presents GenomeViewer's functionalities, which specializes in visualization of somatic mutations in cancer genomics. This easy to use software will enable cancer researchers to seamlessly compare their data against publicly available resources. GenomeViewer uses "Big Data" technologies such as Spark and Parquet, and is based on the UC Berkeley's Analysis Data Model (ADAM) genomic format for cloud scale computing. Our hope is that GenomeViewer will become the preferred tool for viewing somatic mutations for researchers in cancer genomics.

References

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cover image ACM Other conferences
DH '17: Proceedings of the 2017 International Conference on Digital Health
July 2017
256 pages
ISBN:9781450352499
DOI:10.1145/3079452
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.

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Association for Computing Machinery

New York, NY, United States

Publication History

Published: 02 July 2017

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Author Tags

  1. adam
  2. big data
  3. bioinformatics
  4. genomeviewer
  5. genomic loci
  6. goat
  7. indels
  8. software engineering
  9. somatic mutations
  10. spark
  11. substitutions
  12. visualization tool

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DH '17
DH '17: International Conference on Digital Health
July 2 - 5, 2017
London, United Kingdom

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