Genomic mutation consequence calculator Journal Article
| Author: | Major, J. E. |
| Article Title: | Genomic mutation consequence calculator |
| Abstract: | Summary: 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. © 2007 The Author(s). |
| Keywords: | gene mutation; gene sequence; sequence analysis; single nucleotide polymorphism; polymerase chain reaction; disease association; genetic variability; computer interface; mutational analysis; information processing; molecular sequence data; nucleotide sequence; base sequence; models, genetic; computer simulation; reliability; dna mutational analysis; bioinformatics; software; genetic code; rna splicing; chromosome mapping; sequence analysis, dna; variation (genetics); untranslated region |
| Journal Title: | Bioinformatics |
| Volume: | 23 |
| Issue: | 22 |
| ISSN: | 1367-4803 |
| Publisher: | Oxford University Press |
| Date Published: | 2007-11-15 |
| Start Page: | 3091 |
| End Page: | 3092 |
| Language: | English |
| DOI: | 10.1093/bioinformatics/btm339 |
| PUBMED: | 17599934 |
| PROVIDER: | scopus |
| DOI/URL: | |
| Notes: | --- - "Cited By (since 1996): 7" - "Export Date: 17 November 2011" - "CODEN: BOINF" - "Molecular Sequence Numbers: GENBANK: NM_002752, NM_139068, NM_139069, NM_139070" - "Source: Scopus" |
