Sökning: WFRF:(Pollin Toni I.) > Sequence data and a...
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000 | 14492naa a22040813a 4500 | |
001 | 22282570 | |
003 | SE-LIBR | |
005 | 20180116203639.0 | |
007 | cr|||||||||||| | |
008 | 180116s2017 sw |||| o |||| ||eng c | |
024 | 7 | a http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1439352 uri |
024 | 7 | a urn:nbn:se:umu:diva-1439352 urn |
024 | 7 | a 10.1038/sdata.2017.1792 doi |
040 | a S | |
041 | 0 | a eng |
042 | 9 EPLK | |
100 | 1 | a Flannick, Jason4 aut |
245 | 1 0 | a Sequence data and association statistics from 12,940 type 2 diabetes cases and controlsh [Elektronisk resurs] |
260 | b Nature Publishing Groupc 2017 | |
500 | a <p>Data Descriptor</p> | |
500 | a Published | |
506 | 0 | a gratis |
520 | a To investigate the genetic basis of type 2 diabetes (T2D) to high resolution, the GoT2D and T2D-GENES consortia catalogued variation from whole-genome sequencing of 2,657 European individuals and exome sequencing of 12,940 individuals of multiple ancestries. Over 27M SNPs, indels, and structural variants were identified, including 99% of low-frequency (minor allele frequency [MAF] 0.1-5%) non-coding variants in the whole-genome sequenced individuals and 99.7% of low-frequency coding variants in the whole-exome sequenced individuals. Each variant was tested for association with T2D in the sequenced individuals, and, to increase power, most were tested in larger numbers of individuals (> 80% of low-frequency coding variants in similar to 82 K Europeans via the exome chip, and similar to 90% of low-frequency non-coding variants in similar to 44 K Europeans via genotype imputation). The variants, genotypes, and association statistics from these analyses provide the largest reference to date of human genetic information relevant to T2D, for use in activities such as T2D-focused genotype imputation, functional characterization of variants or genes, and other novel analyses to detect associations between sequence variation and T2D. | |
650 | 7 | a Medical and Health Sciences2 hsv |
650 | 7 | a Clinical Medicine2 hsv |
650 | 7 | a Endocrinology and Diabetes2 hsv |
650 | 7 | a Medicin och hälsovetenskap2 hsv |
650 | 7 | a Klinisk medicin2 hsv |
650 | 7 | a Endokrinologi och diabetes2 hsv |
700 | 1 | a Fuchsberger, Christian4 aut |
700 | 1 | a Mahajan, Anubha4 aut |
700 | 1 | a Teslovich, Tanya M.4 aut |
700 | 1 | a Agarwala, Vineeta4 aut |
700 | 1 | a Gaulton, Kyle J.4 aut |
700 | 1 | a Caulkins, Lizz4 aut |
700 | 1 | a Koesterer, Ryan4 aut |
700 | 1 | a Ma, Clement4 aut |
700 | 1 | a Moutsianas, Loukas4 aut |
700 | 1 | a McCarthy, Davis J.4 aut |
700 | 1 | a Rivas, Manuel A.4 aut |
700 | 1 | a Perry, John R. B.4 aut |
700 | 1 | a Sim, Xueling4 aut |
700 | 1 | a Blackwell, Thomas W.4 aut |
700 | 1 | a Robertson, Neil R.4 aut |
700 | 1 | a Rayner, N. William4 aut |
700 | 1 | a Cingolani, Pablo4 aut |
700 | 1 | a Locke, Adam E.4 aut |
700 | 1 | a Tajes, Juan Fernandez4 aut |
700 | 1 | a Highland, Heather M.4 aut |
700 | 1 | a Dupuis, Josee4 aut |
700 | 1 | a Chines, Peter S.4 aut |
700 | 1 | a Lindgren, Cecilia M.4 aut |
700 | 1 | a Hartl, Christopher4 aut |
700 | 1 | a Jackson, Anne U.4 aut |
700 | 1 | a Chen, Han4 aut |
700 | 1 | a Huyghe, Jeroen R.4 aut |
700 | 1 | a De Bunt, Martijn Van4 aut |
700 | 1 | a Pearson, Richard D.4 aut |
700 | 1 | a Kumar, Ashish4 aut |
700 | 1 | a Muller-Nurasyid, Martina4 aut |
700 | 1 | a Grarup, Niels4 aut |
700 | 1 | a Stringham, Heather M.4 aut |
700 | 1 | a Gamazon, Eric R.4 aut |
700 | 1 | a Lee, Jaehoon4 aut |
700 | 1 | a Chen, Yuhui4 aut |
700 | 1 | a Scott, Robert A.4 aut |
700 | 1 | a Below, Jennifer E.4 aut |
700 | 1 | a Chen, Peng4 aut |
700 | 1 | a Huang, Jinyan4 aut |
700 | 1 | a Go, Min Jin4 aut |
700 | 1 | a Stitzel, Michael L.4 aut |
700 | 1 | a Pasko, Dorota4 aut |
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700 | 1 | a Varga, Tibor V.4 aut |
700 | 1 | a Green, Todd4 aut |
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700 | 1 | a Ferreira, Teresa4 aut |
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700 | 1 | a Huh, Iksoo4 aut |
700 | 1 | a Ikram, Mohammad Kamran4 aut |
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700 | 1 | a Kim, Yongkang4 aut |
700 | 1 | a Kim, Young Jin4 aut |
700 | 1 | a Kwon, Min-Seok4 aut |
700 | 1 | a Lee, Juyoung4 aut |
700 | 1 | a Lee, Selyeong4 aut |
700 | 1 | a Lin, Keng-Han4 aut |
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700 | 1 | a Nagai, Yoshihiko4 aut |
700 | 1 | a Wang, Xu4 aut |
700 | 1 | a Welch, Ryan P.4 aut |
700 | 1 | a Yoon, Joon4 aut |
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700 | 1 | a Barzilai, Nir4 aut |
700 | 1 | a Voight, Benjamin F.4 aut |
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700 | 1 | a Jenkinson, Christopher P.4 aut |
700 | 1 | a Kuulasmaa, Teemu4 aut |
700 | 1 | a Kuusisto, Johanna4 aut |
700 | 1 | a Manning, Alisa4 aut |
700 | 1 | a Ng, Maggie C. Y.4 aut |
700 | 1 | a Palmer, Nicholette D.4 aut |
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700 | 1 | a Abboud, Hanna E.4 aut |
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700 | 1 | a Giedraitis, Vilmantas4 aut |
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700 | 1 | a Smith, Joshua D.4 aut |
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700 | 1 | a Lam, Vincent K. L.4 aut |
700 | 1 | a Park, Kyong Soo4 aut |
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700 | 1 | a Tam, Claudia H. T.4 aut |
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700 | 1 | a Arya, Rector4 aut |
700 | 1 | a Aung, Tin4 aut |
700 | 1 | a Chan, Edmund4 aut |
700 | 1 | a Navarro, Carmen4 aut |
700 | 1 | a Cheng, Ching-Yu4 aut |
700 | 1 | a Palli, Domenico4 aut |
700 | 1 | a Correa, Adolfo4 aut |
700 | 1 | a Curran, Joanne E.4 aut |
700 | 1 | a Rybin, Dennis4 aut |
700 | 1 | a Farook, Vidya S.4 aut |
700 | 1 | a Fowler, Sharon P.4 aut |
700 | 1 | a Freedman, Barry I.4 aut |
700 | 1 | a Griswold, Michael4 aut |
700 | 1 | a Hale, Daniel Esten4 aut |
700 | 1 | a Hicks, Pamela J.4 aut |
700 | 1 | a Khor, Chiea-Chuen4 aut |
700 | 1 | a Kumar, Satish4 aut |
700 | 1 | a Lehne, Benjamin4 aut |
700 | 1 | a Thuillier, Dorothee4 aut |
700 | 1 | a Lim, Wei Yen4 aut |
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700 | 1 | a Scott, William R.4 aut |
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700 | 1 | a Tan, Sian-Tsung4 aut |
700 | 1 | a Taylor, Herman A.4 aut |
700 | 1 | a Thameem, Farook4 aut |
700 | 1 | a Wilson, Gregory4 aut |
700 | 1 | a Wong, Tien Yin4 aut |
700 | 1 | a Njolstad, Pal Rasmus4 aut |
700 | 1 | a Levy, Jonathan C.4 aut |
700 | 1 | a Mangino, Massimo4 aut |
700 | 1 | a Bonnycastle, Lori L.4 aut |
700 | 1 | a Schwarzmayr, Thomas4 aut |
700 | 1 | a Fadista, Joao4 aut |
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700 | 1 | a Herder, Christian4 aut |
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700 | 1 | a Bork-Jensen, Jette4 aut |
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700 | 1 | a Christensen, Cramer4 aut |
700 | 1 | a Koistinen, Heikki A.4 aut |
700 | 1 | a Doney, Alex S. F.4 aut |
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700 | 1 | a Esko, Tonu4 aut |
700 | 1 | a Farmer, Andrew J.4 aut |
700 | 1 | a Hakaste, Liisa4 aut |
700 | 1 | a Hodgkiss, Dylan4 aut |
700 | 1 | a Kravic, Jasmina4 aut |
700 | 1 | a Lyssenko, Valeriya4 aut |
700 | 1 | a Hollensted, Mette4 aut |
700 | 1 | a Jorgensen, Marit E.4 aut |
700 | 1 | a Jorgensen, Torben4 aut |
700 | 1 | a Ladenvall, Claes4 aut |
700 | 1 | a Justesen, Johanne Marie4 aut |
700 | 1 | a Karajamaki, Annemari4 aut |
700 | 1 | a Kriebel, Jennifer4 aut |
700 | 1 | a Rathmann, Wolfgang4 aut |
700 | 1 | a Lannfelt, Lars4 aut |
700 | 1 | a Lauritzen, Torsten4 aut |
700 | 1 | a Narisu, Narisu4 aut |
700 | 1 | a Linneberg, Allan4 aut |
700 | 1 | a Melander, Olle4 aut |
700 | 1 | a Milani, Lili4 aut |
700 | 1 | a Neville, Matt4 aut |
700 | 1 | a Orho-Melander, Marju4 aut |
700 | 1 | a Qi, Lu4 aut |
700 | 1 | a Qi, Qibin4 aut |
700 | 1 | a Roden, Michael4 aut |
700 | 1 | a Rolandsson, Olov4 aut |
700 | 1 | a Swift, Amy4 aut |
700 | 1 | a Rosengren, Anders H.4 aut |
700 | 1 | a Stirrups, Kathleen4 aut |
700 | 1 | a Wood, Andrew R.4 aut |
700 | 1 | a Mihailov, Evelin4 aut |
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700 | 1 | a Carneiro, Mauricio O.4 aut |
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710 | 1 2 | a Umeå universitetb Medicinska fakulteten4 pbl0 268483 |
772 | 1 8 | i channel recordw 18813935 |
773 | 0 8 | i Värdpublikationt Scientific Datag 4 |
856 | 4 0 | u http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-143935 |
856 | 4 0 | u http://dx.doi.org/10.1038/sdata.2017.179 |
856 | 4 0 | u http://umu.diva-portal.org/smash/get/diva2:1174349/FULLTEXT01 |
900 | 1 s | 6 700a Collins, Francis Sellarsu Collins, Francis S. |
900 | 1 s | 6 700a Collins, Francis,d 1950-u Collins, Francis S. |
910 | 2 s | 6 710a Umeå universitet.b Medicinsk-odontologiska fakultetenu Umeå universitet.b Medicinska fakulteten |
910 | 2 s | 6 710a Medicinska fakulteten vid Umeå universitetu Umeå universitet.b Medicinska fakulteten |
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