Data di Pubblicazione:
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.
Tipologia CRIS:
01.01 Articolo in rivista
Keywords:
Point mutation; Mapping
Elenco autori:
LE PERA, Loredana
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