14,029 research outputs found

    SNPredict: A Machine Learning Approach for Detecting Low Frequency Variants in Cancer

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    Cancer is a genetic disease caused by the accumulation of DNA variants such as single nucleotide changes or insertions/deletions in DNA. DNA variants can cause silencing of tumor suppressor genes or increase the activity of oncogenes. In order to come up with successful therapies for cancer patients, these DNA variants need to be identified accurately. DNA variants can be identified by comparing DNA sequence of tumor tissue to a non-tumor tissue by using Next Generation Sequencing (NGS) technology. But the problem of detecting variants in cancer is hard because many of these variant occurs only in a small subpopulation of the tumor tissue. It becomes a challenge to distinguish these low frequency variants from sequencing errors, which are common in today\u27s NGS methods. Several algorithms have been made and implemented as a tool to identify such variants in cancer. However, it has been previously shown that there is low concordance in the results produced by these tools. Moreover, the number of false positives tend to significantly increase when these tools are faced with low frequency variants. This study presents SNPredict, a single nucleotide polymorphism (SNP) detection pipeline that aims to utilize the results of multiple variant callers to produce a consensus output with higher accuracy than any of the individual tool with the help of machine learning techniques. By extracting features from the consensus output that describe traits associated with an individual variant call, it creates binary classifiers that predict a SNP’s true state and therefore help in distinguishing a sequencing error from a true variant

    ANALYZING BIG DATA WITH DECISION TREES

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    ANALYZING BIG DATA WITH DECISION TREE

    Power to the people: end-user building of digital library collections

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    Naturally, digital library systems focus principally on the reader: th e consumer of the material that constitutes the library. In contrast, this paper describes an interface that makes it easy for people to build their own library collections. Collections may be built and served locally from the user's own web server, or (given appropriate permissions) remotely on a shared digital library host. End users can easily build new collections styled after existing ones from material on the Web or from their local files-or both, and collections can be updated and new ones brought on-line at any time. The interface, which is intended for non-professional end users, is modeled after widely used commercial software installation packages. Lest one quail at the prospect of end users building their own collections on a shared system, we also describe an interface for the administrative user who is responsible for maintaining a digital library installation
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