Sökning: WFRF:(Pinto Dalila) > Origins and functio...
Fältnamn | Indikatorer | Metadata |
---|---|---|
000 | 03383naa a2200625 4500 | |
001 | oai:DiVA.org:uu-136642 | |
003 | SwePub | |
008 | 101214s2010 | |||||||||||000 ||eng| | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-1366422 URI |
024 | 7 | a https://doi.org/10.1038/nature085162 DOI |
040 | a (SwePub)uu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Conrad, Donald F.4 aut |
245 | 1 0 | a Origins and functional impact of copy number variation in the human genome |
264 | c 2009-10-07 | |
264 | 1 | b Springer Science and Business Media LLC,c 2010 |
338 | a print2 rdacarrier | |
520 | a Structural variations of DNA greater than 1 kilobase in size account for most bases that vary among human genomes, but are still relatively under-ascertained. Here we use tiling oligonucleotide microarrays, comprising 42 million probes, to generate a comprehensive map of 11,700 copy number variations (CNVs) greater than 443 base pairs, of which most (8,599) have been validated independently. For 4,978 of these CNVs, we generated reference genotypes from 450 individuals of European, African or East Asian ancestry. The predominant mutational mechanisms differ among CNV size classes. Retrotransposition has duplicated and inserted some coding and non-coding DNA segments randomly around the genome. Furthermore, by correlation with known trait-associated single nucleotide polymorphisms (SNPs), we identified 30 loci with CNVs that are candidates for influencing disease susceptibility. Despite this, having assessed the completeness of our map and the patterns of linkage disequilibrium between CNVs and SNPs, we conclude that, for complex traits, the heritability void left by genome-wide association studies will not be accounted for by common CNVs. | |
653 | a MEDICINE | |
653 | a MEDICIN | |
700 | 1 | a Pinto, Dalila4 aut |
700 | 1 | a Redon, Richard4 aut |
700 | 1 | a Feuk, Larsu Uppsala universitet,Institutionen för genetik och patologi4 aut0 (Swepub:uu)larsfeuk |
700 | 1 | a Gokcumen, Omer4 aut |
700 | 1 | a Zhang, Yujun4 aut |
700 | 1 | a Aerts, Jan4 aut |
700 | 1 | a Andrews, T. Daniel4 aut |
700 | 1 | a Barnes, Chris4 aut |
700 | 1 | a Campbell, Peter4 aut |
700 | 1 | a Fitzgerald, Tomas4 aut |
700 | 1 | a Hu, Min4 aut |
700 | 1 | a Ihm, Chun Hwa4 aut |
700 | 1 | a Kristiansson, Kati4 aut |
700 | 1 | a MacArthur, Daniel G.4 aut |
700 | 1 | a MacDonald, Jeffrey R.4 aut |
700 | 1 | a Onyiah, Ifejinelo4 aut |
700 | 1 | a Pang, Andy Wing Chun4 aut |
700 | 1 | a Robson, Sam4 aut |
700 | 1 | a Stirrups, Kathy4 aut |
700 | 1 | a Valsesia, Armand4 aut |
700 | 1 | a Walter, Klaudia4 aut |
700 | 1 | a Wei, John4 aut |
700 | 1 | a Tyler-Smith, Chris4 aut |
700 | 1 | a Carter, Nigel P.4 aut |
700 | 1 | a Lee, Charles4 aut |
700 | 1 | a Scherer, Stephen W.4 aut |
700 | 1 | a Hurles, Matthew E.4 aut |
710 | 2 | a Uppsala universitetb Institutionen för genetik och patologi4 org |
773 | 0 | t Natured : Springer Science and Business Media LLCg 464:7289, s. 704-712q 464:7289<704-712x 0028-0836x 1476-4687 |
856 | 4 | u https://europepmc.org/articles/pmc3330748?pdf=render |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-136642 |
856 | 4 8 | u https://doi.org/10.1038/nature08516 |
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