WFRF:(Beaudoin Melissa)
Sökning: WFRF:(Beaudoin Melissa) > Deep resequencing o...
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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 03959naa a2200781 4500 | |
| 001 | oai:DiVA.org:oru-20836 | |
| 003 | SwePub | |
| 008 | 120111s2011 | |||||||||||000 ||eng| | |
| 009 | oai:prod.swepub.kib.ki.se:123530963 | |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-208362 URI |
| 024 | 7 | a https://doi.org/10.1038/ng.9522 DOI |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1235309632 URI |
| 040 | a (SwePub)orud (SwePub)ki | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Rivas, Manuel A.4 aut |
| 245 | 1 0 | a Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease |
| 264 | c 2011-10-09 | |
| 264 | 1 | b Springer Science and Business Media LLC,c 2011 |
| 338 | a print2 rdacarrier | |
| 520 | a More than 1,000 susceptibility loci have been identified through genome-wide association studies (GWAS) of common variants; however, the specific genes and full allelic spectrum of causal variants underlying these findings have not yet been defined. Here we used pooled next-generation sequencing to study 56 genes from regions associated with Crohn's disease in 350 cases and 350 controls. Through follow-up genotyping of 70 rare and low-frequency protein-altering variants in nine independent case-control series (16,054 Crohn's disease cases, 12,153 ulcerative colitis cases and 17,575 healthy controls), we identified four additional independent risk factors in NOD2, two additional protective variants in IL23R, a highly significant association with a protective splice variant in CARD9 (P < 1 x 10(-16), odds ratio approximate to 0.29) and additional associations with coding variants in IL18RAP, CUL2, C1orf106, PTPN22 and MUC19. We extend the results of successful GWAS by identifying new, rare and probably functional variants that could aid functional experiments and predictive models. | |
| 653 | a Medicine | |
| 653 | a Medicin | |
| 700 | 1 | a Beaudoin, Melissa4 aut |
| 700 | 1 | a Gardet, Agnes4 aut |
| 700 | 1 | a Stevens, Christine4 aut |
| 700 | 1 | a Sharma, Yashoda4 aut |
| 700 | 1 | a Zhang, Clarence K.4 aut |
| 700 | 1 | a Boucher, Gabrielle4 aut |
| 700 | 1 | a Ripke, Stephan4 aut |
| 700 | 1 | a Ellinghaus, David4 aut |
| 700 | 1 | a Burtt, Noel4 aut |
| 700 | 1 | a Fennell, Tim4 aut |
| 700 | 1 | a Kirby, Andrew4 aut |
| 700 | 1 | a Latiano, Anna4 aut |
| 700 | 1 | a Goyette, Philippe4 aut |
| 700 | 1 | a Green, Todd4 aut |
| 700 | 1 | a Halfvarson, Jonasu Örebro universitet,Hälsoakademin4 aut0 (Swepub:oru)jshn |
| 700 | 1 | a Haritunians, Talin4 aut |
| 700 | 1 | a Korn, Joshua M.4 aut |
| 700 | 1 | a Kuruvilla, Finny4 aut |
| 700 | 1 | a Lagace, Caroline4 aut |
| 700 | 1 | a Neale, Benjamin4 aut |
| 700 | 1 | a Lo, Ken Sin4 aut |
| 700 | 1 | a Schumm, Phil4 aut |
| 700 | 1 | a Torkvist, Leifu Karolinska Institutet4 aut |
| 700 | 1 | a Dubinsky, Marla C.4 aut |
| 700 | 1 | a Brant, Steven R.4 aut |
| 700 | 1 | a Silverberg, Mark S.4 aut |
| 700 | 1 | a Duerr, Richard H.4 aut |
| 700 | 1 | a Altshuler, David4 aut |
| 700 | 1 | a Gabriel, Stacey4 aut |
| 700 | 1 | a Lettre, Guillaume4 aut |
| 700 | 1 | a Franke, Andre4 aut |
| 700 | 1 | a D'Amato, Maurou Karolinska Institutet4 aut |
| 700 | 1 | a McGovern, Dermot P. B.4 aut |
| 700 | 1 | a Cho, Judy H.4 aut |
| 700 | 1 | a Rioux, John D.4 aut |
| 700 | 1 | a Xavier, Ramnik J.4 aut |
| 700 | 1 | a Daly, Mark J.4 aut |
| 710 | 2 | a Örebro universitetb Hälsoakademin4 org |
| 773 | 0 | t Nature Geneticsd : Springer Science and Business Media LLCg 43:11, s. 1066-U50q 43:11<1066-U50x 1061-4036x 1546-1718 |
| 856 | 4 | u https://europepmc.org/articles/pmc3378381?pdf=render |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-20836 |
| 856 | 4 8 | u https://doi.org/10.1038/ng.952 |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:123530963 |
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