CHASM and SNVBox: toolkit for detecting biologically important single nucleotide mutations in cancer.

CHASM and SNVBox: toolkit for detecting biologically important single nucleotide mutations in cancer.
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DOI:
10.1093/bioinformatics/btr357
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发表时间:
2011-08-01
期刊:
Bioinformatics (Oxford, England)
影响因子:
--
通讯作者:
Karchin R
Karchin R
中科院分区:
其他
文献类型:
--
作者:
Wong WC;Kim D;Carter H;Diekhans M;Ryan MC;Karchin R

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Summary: Thousands of cancer exomes are currently being sequenced, yielding millions of non-synonymous single nucleotide variants (SNVs) of possible relevance to disease etiology. Here, we provide a software toolkit to prioritize SNVs based on their predicted contribution to tumorigenesis. It includes a database of precomputed, predictive features covering all positions in the annotated human exome and can be used either stand-alone or as part of a larger variant discovery pipeline. Availability and Implementation: MySQL database, source code and binaries freely available for academic/government use at http://wiki.chasmsoftware.org, Source in Python and C++. Requires 32 or 64-bit Linux system (tested on Fedora Core 8,10,11 and Ubuntu 10), 2.5*≤ Python <3.0*, MySQL server >5.0, 60 GB available hard disk space (50 MB for software and data files, 40 GB for MySQL database dump when uncompressed), 2 GB of RAM. Contact: karchin@jhu.edu Supplementary Information: Supplementary data are available at Bioinformatics online.
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发表时间: 2004-03
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影响因子: --
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发表时间: 2010-09-15
影响因子: 3.6
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