Genomic mutation consequence calculator.

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Genomic mutation consequence calculator. Abstract Text:

John E Major,John E Major,

The genomic mutation consequence calculator (GMCC) is a tool that will reliably and quickly calculate the consequence of arbitrary genomic mutations. GMCC also reports supporting annotations for the specified genomic region. The particular strength of the GMCC is it works in genomic space, not simply in spliced transcript space as some similar tools do. Within gene features, GMCC can report on the effects on splice site, UTR and coding regions in all isoforms affected by the mutation. A considerable number of genomic annotations are also reported, including: genomic conservation score, known SNPs, COSMIC mutations, disease associations and others. The manual interface also offers link outs to various external databases and resources. In batch mode, GMCC returns a csv file which can easily be parsed by the end user. Audience: GMCC is intended to support the many tumor resequencing efforts, but can be useful to any study investigating genomic mutations.

Genomic mutation consequence calculator. Publishing Authors By Initials

JE Major,JE Major,

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PUBLICATION TYPE: Journal Article

Journal: Bioinformatics (Oxford, England)

VOLUME: 23

Page Numbers: 3091-2

Journal Abbreviation: Bioinformatics

ISSN: 1460-2059

DAY: 28

MONTH: 06

YEAR: 2007

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LANGUAGE: eng

NlmUniqueID: 9808944

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AFFILIATION: Memorial Sloan-Kettering Computational Biology Center, 1275 York Avenue, Box 460, New York, NY 10021, USA. majorj@mskcc.org

Country: England

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MEDLINETA: Bioinformatics

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