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.

PICMI: mapping point mutations on genomes / LE PERA, Loredana; Marcatili, Paolo; Tramontano, Anna. - In: BIOINFORMATICS. - ISSN 1367-4803. - 26:22(2010), pp. 2904-2905. [10.1093/bioinformatics/btq547]

PICMI: mapping point mutations on genomes

LE PERA, LOREDANA;MARCATILI, PAOLO;TRAMONTANO, ANNA
2010

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.
2010
01 Pubblicazione su rivista::01a Articolo in rivista
PICMI: mapping point mutations on genomes / LE PERA, Loredana; Marcatili, Paolo; Tramontano, Anna. - In: BIOINFORMATICS. - ISSN 1367-4803. - 26:22(2010), pp. 2904-2905. [10.1093/bioinformatics/btq547]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/395832
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