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1.	Artigas Soler, María, et al. (author) Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. 2011 In: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 43:11, s. 1082-90 Journal article (peer-reviewed)abstract Pulmonary function measures reflect respiratory health and are used in the diagnosis of chronic obstructive pulmonary disease. We tested genome-wide association with forced expiratory volume in 1 second and the ratio of forced expiratory volume in 1 second to forced vital capacity in 48,201 individuals of European ancestry with follow up of the top associations in up to an additional 46,411 individuals. We identified new regions showing association (combined P < 5 × 10(-8)) with pulmonary function in or near MFAP2, TGFB2, HDAC4, RARB, MECOM (also known as EVI1), SPATA9, ARMC2, NCR3, ZKSCAN3, CDC123, C10orf11, LRP1, CCDC38, MMP15, CFDP1 and KCNE2. Identification of these 16 new loci may provide insight into the molecular mechanisms regulating pulmonary function and into molecular targets for future therapy to alleviate reduced lung function.
2.	McCarthy, Shane, et al. (author) A reference panel of 64,976 haplotypes for genotype imputation 2016 In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 48:10, s. 1279-1283 Journal article (peer-reviewed)abstract We describe a reference panel of 64,976 human haplotypes at 39,235,157 SNPs constructed using whole-genome sequence data from 20 studies of predominantly European ancestry. Using this resource leads to accurate genotype imputation at minor allele frequencies as low as 0.1% and a large increase in the number of SNPs tested in association studies, and it can help to discover and refine causal loci. We describe remote server resources that allow researchers to carry out imputation and phasing consistently and efficiently.

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Type of publication: journal article (2)

Type of content: peer-reviewed (2)

Author/Editor: Campbell, Harry (2); Ripatti, Samuli (2); Marchini, Jonathan (2); Rantanen, Taina (1); Groop, Leif (1); Salomaa, Veikko (1); show more...; Heinrich, Joachim (1); Pin, Isabelle (1); Imboden, Medea (1); Probst-Hensch, Nicol ... (1); Cooper, Cyrus (1); Hardy, Rebecca (1); Kuh, Diana (1); Rochat, Thierry (1); Soranzo, Nicole (1); Rudan, Igor (1); van den Berg, Leonar ... (1); Breen, Gerome (1); Strachan, David P (1); Peters, Ulrike (1); North, Kari E. (1); Wareham, Nicholas J. (1); McCarthy, Mark I (1); van Duijn, Cornelia ... (1); Boehnke, Michael (1); Mohlke, Karen L (1); Surakka, Ida (1); Kähönen, Mika (1); Tuomilehto, Jaakko (1); Rotter, Jerome I. (1); van Rheenen, Wouter (1); Nyberg, Fredrik, 196 ... (1); Koskinen, Seppo (1); Brisman, Jonas, 1954 (1); Albrecht, Eva (1); Karrasch, Stefan (1); Mangino, Massimo (1); Gieger, Christian (1); Wichmann, H. Erich (1); Spector, Tim D. (1); Kaprio, Jaakko (1); Schulz, Holger (1); Olin, Anna-Carin, 19 ... (1); Barroso, Ines (1); Heliövaara, Markku (1); Durbin, Richard (1); Delaneau, Olivier (1); Mahajan, Anubha (1); Hattersley, Andrew (1); Boezen, H Marike (1); show less...

University: University of Gothenburg (1); Lund University (1)

Language: English (2)

Research subject (UKÄ/SCB): Medical and Health Sciences (2)

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