PICMI: mapping point mutations on genomes.

Loredana Le Pera, Paolo Marcatili, Anna Tramontano

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

Abstract

MOTIVATION: Several international collaborations and local projects are producing extensive catalogues of genomic variations that are supplementing existing collections such as the OMIM catalogue. The flood of this type of data will keep increasing and, especially, it will be relevant to a wider user base, including not only molecular biologists, geneticists and bioinformaticians, but also clinical researchers. Mapping the observed variations, sometimes only described at the amino acid level, on a genome, identifying whether they affect a gene and-if so-whether they also affect different isoforms of the same gene, is a time consuming and often frustrating task. RESULTS: The PICMI server is an easy to use tool for quickly mapping one or more amino acid or nucleotide variations on a genome and its products, including alternatively spliced isoforms. AVAILABILITY: The server is available at www.biocomputing.it/picmi.
Original languageEnglish (US)
Pages (from-to)2904-2905
Number of pages2
JournalBioinformatics
Volume26
Issue number22
DOIs
StatePublished - Oct 12 2010
Externally publishedYes

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