{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,9]],"date-time":"2023-10-09T10:42:01Z","timestamp":1696848121063},"reference-count":9,"publisher":"Oxford University Press (OUP)","issue":"22","license":[{"start":{"date-parts":[[2016,10,2]],"date-time":"2016-10-02T00:00:00Z","timestamp":1475366400000},"content-version":"vor","delay-in-days":2182,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/2.0\/uk\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2010,11,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>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\u2014if so\u2014whether they also affect different isoforms of the same gene, is a time consuming and often frustrating task.<\/jats:p>\n               <jats:p>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.<\/jats:p>\n               <jats:p>Availability: The server is available at www.biocomputing.it\/picmi<\/jats:p>\n               <jats:p>Contact: \u00a0anna.tramontano@uniromal.it<\/jats:p>","DOI":"10.1093\/bioinformatics\/btq547","type":"journal-article","created":{"date-parts":[[2010,10,19]],"date-time":"2010-10-19T04:15:50Z","timestamp":1287461750000},"page":"2904-2905","source":"Crossref","is-referenced-by-count":4,"title":["PICMI: mapping point mutations on genomes"],"prefix":"10.1093","volume":"26","author":[{"given":"Loredana","family":"Le Pera","sequence":"first","affiliation":[{"name":"1 Department of Biochemical Sciences and 2Istituto Pasteur \u2013 Fondazione Cenci Bolognetti, Sapienza University of Rome, P.le A. Moro, 5 -00185 Rome"}]},{"given":"Paolo","family":"Marcatili","sequence":"additional","affiliation":[{"name":"1 Department of Biochemical Sciences and 2Istituto Pasteur \u2013 Fondazione Cenci Bolognetti, Sapienza University of Rome, P.le A. Moro, 5 -00185 Rome"}]},{"given":"Anna","family":"Tramontano","sequence":"additional","affiliation":[{"name":"1 Department of Biochemical Sciences and 2Istituto Pasteur \u2013 Fondazione Cenci Bolognetti, Sapienza University of Rome, P.le A. Moro, 5 -00185 Rome"},{"name":"1 Department of Biochemical Sciences and 2Istituto Pasteur \u2013 Fondazione Cenci Bolognetti, Sapienza University of Rome, P.le A. Moro, 5 -00185 Rome"}]}],"member":"286","published-online":{"date-parts":[[2010,10,12]]},"reference":[{"key":"2023012507562678800_B1","doi-asserted-by":"crossref","first-page":"D793","DOI":"10.1093\/nar\/gkn665","article-title":"McKusick's online mendelian inheritance in man (OMIM)","volume":"37","author":"Amberger","year":"2009","journal-title":"Nucleic Acids Res."},{"key":"2023012507562678800_B2","doi-asserted-by":"crossref","first-page":"D690","DOI":"10.1093\/nar\/gkn828","article-title":"Ensembl 2009","volume":"37","author":"Hubbard","year":"2009","journal-title":"Nucleic Acids Res."},{"key":"2023012507562678800_B3","doi-asserted-by":"crossref","first-page":"897","DOI":"10.1172\/JCI9804","article-title":"Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1","volume":"106","author":"Huopio","year":"2000","journal-title":"J. Clin. 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