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.

PICMI: mapping point mutations on genomes

Le Pera Loredana;
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.
2010
Inglese
26
22
2904
2905
2
Sì, ma tipo non specificato
Point mutation
Mapping
3
info:eu-repo/semantics/article
262
LE PERA, Loredana; Marcatili, Paolo; Tramontano, Anna
01 Contributo su Rivista::01.01 Articolo in rivista
none
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.14243/424037
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