Origins and functional impact of copy number variation in the human genome

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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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