GENOMEVIEWER:一个交互式基因组体细胞突变可视化工具。

Beatriz S. Kanzki, A. April
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摘要

新一代测序(NGS)技术为肿瘤基因组学领域的研究人员提供了新的见解。这些技术通过快速检测和识别预期的突变来改善临床治疗,从而提供有价值的遗传信息。为了有效地利用这些大量数据,必须仔细而快速地处理、探索和解释这些数据。与此同时,癌症研究继续发表基于大规模合作项目的新理论和发现,这些项目提供了公开可用的基因组和临床癌症数据。然而,研究人员很难充分利用这些数据,尽管这些数据很容易获得。在NGS技术不断增长的输出规模和复杂性之间,以及越来越多的公开可用的异构数据库之间,处理和探索这些数据对普通研究人员来说可能是一个挑战。本文介绍了GenomeViewer的功能,它专门用于癌症基因组学中体细胞突变的可视化。这个易于使用的软件将使癌症研究人员能够无缝地将他们的数据与公共可用资源进行比较。GenomeViewer使用Spark和Parquet等“大数据”技术,并基于加州大学伯克利分校的分析数据模型(ADAM)基因组格式,用于云规模计算。我们的希望是,GenomeViewer将成为癌症基因组学研究人员查看体细胞突变的首选工具。
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GENOMEVIEWER: An Interactive Genomic Somatic Mutation Visualizer.
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.
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