TY - JOUR
T1 - PICMI: mapping point mutations on genomes.
AU - Le Pera, Loredana
AU - Marcatili, Paolo
AU - Tramontano, Anna
N1 - KAUST Repository Item: Exported on 2020-10-01
Acknowledged KAUST grant number(s): KUK-I1-012-43
Acknowledgements: KAUST (Award N. KUK-I1-012-43) and FIRB (Italbionet and Proteomica).
This publication acknowledges KAUST support, but has no KAUST affiliated authors.
PY - 2010/10/12
Y1 - 2010/10/12
N2 - 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.
AB - 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.
UR - http://hdl.handle.net/10754/596811
UR - https://academic.oup.com/bioinformatics/article-lookup/doi/10.1093/bioinformatics/btq547
UR - http://www.scopus.com/inward/record.url?scp=78149272196&partnerID=8YFLogxK
U2 - 10.1093/bioinformatics/btq547
DO - 10.1093/bioinformatics/btq547
M3 - Article
C2 - 20940168
SN - 1367-4803
VL - 26
SP - 2904
EP - 2905
JO - Bioinformatics
JF - Bioinformatics
IS - 22
ER -