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Sökning: WFRF:(Leroy Adam) > (2010-2014) > Data-driven unbiase...

LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00003730naa a2200421 4500
001oai:DiVA.org:uu-175985
003SwePub
008120614s2012 | |||||||||||000 ||eng|
009oai:prod.swepub.kib.ki.se:124817991
024a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-1759852 URI
024a https://doi.org/10.1073/pnas.12000191092 DOI
024a http://kipublications.ki.se/Default.aspx?queryparsed=id:1248179912 URI
040 a (SwePub)uud (SwePub)ki
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
100a Edlund, Karolinau Uppsala universitet,Molekylär och morfologisk patologi4 aut0 (Swepub:uu)kaedl086
2451 0a Data-driven unbiased curation of the TP53 tumor suppressor gene mutation database and validation by ultradeep sequencing of human tumors
264 c 2012-05-24
264 1b Proceedings of the National Academy of Sciences,c 2012
338 a print2 rdacarrier
520 a Cancer mutation databases are expected to play central roles in personalized medicine by providing targets for drug development and biomarkers to tailor treatments to each patient. The accuracy of reported mutations is a critical issue that is commonly overlooked, which leads to mutation databases that include a sizable number of spurious mutations, either sequencing errors or passenger mutations. Here we report an analysis of the latest version of the TP53 mutation database, including 34,453 mutations. By using several data-driven methods on multiple independent quality criteria, we obtained a quality score for each report contributing to the database. This score can now be used to filter for high-confidence mutations and reports within the database. Sequencing the entire TP53 gene from various types of cancer using next-generation sequencing with ultradeep coverage validated our approach for curation. In summary, 9.7% of all collected studies, mostly comprising numerous tumors with multiple infrequent TP53 mutations, should be excluded when analyzing TP53 mutations. Thus, by combining statistical and experimental analyses, we provide a curated mutation database for TP53 mutations and a framework for mutation database analysis.
700a Larsson, Olau Karolinska Institutet4 aut
700a Ameur, Adamu Uppsala universitet,Science for Life Laboratory, SciLifeLab,Institutionen för immunologi, genetik och patologi4 aut0 (Swepub:uu)adame789
700a Bunikis, Ignasu Uppsala universitet,Science for Life Laboratory, SciLifeLab,Genomik4 aut0 (Swepub:uu)ignbu776
700a Gyllensten, Ulfu Uppsala universitet,Science for Life Laboratory, SciLifeLab,Genomik4 aut0 (Swepub:uu)ulfgyll
700a Leroy, Bernard4 aut
700a Sundström, Magnusu Uppsala universitet,Molekylär och morfologisk patologi4 aut0 (Swepub:uu)magnsund
700a Micke, Patricku Uppsala universitet,Molekylär och morfologisk patologi4 aut0 (Swepub:uu)patmi676
700a Botling, Johanu Uppsala universitet,Molekylär och morfologisk patologi4 aut0 (Swepub:uu)johanbot
700a Soussi, Thierryu Karolinska Institutet4 aut
710a Uppsala universitetb Molekylär och morfologisk patologi4 org
773t Proceedings of the National Academy of Sciences of the United States of Americad : Proceedings of the National Academy of Sciencesg 109:24, s. 9551-9556q 109:24<9551-9556x 0027-8424x 1091-6490
856u https://www.pnas.org/content/pnas/109/24/9551.full.pdf
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-175985
8564 8u https://doi.org/10.1073/pnas.1200019109
8564 8u http://kipublications.ki.se/Default.aspx?queryparsed=id:124817991

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