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10.1101/gr.218891.116

http://scihub22266oqcxt.onion/10.1101/gr.218891.116
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C5580718!5580718!28774965
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suck abstract from ncbi


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pmid28774965      Genome+Res 2017 ; 27 (9): 1597-607
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  • Assembly and analysis of 100 full MHC haplotypes from the Danish population #MMPMID28774965
  • Jensen JM; Villesen P; Friborg RM; Mailund T; Besenbacher S; Schierup MH; Maretty L; Jensen JM; Petersen B; Sibbesen JA; Liu S; Villesen P; Skov L; Belling K; Have CT; Izarzugaza JM; Grosjean M; Bork-Jensen J; Grove J; Als TD; Huang S; Chang Y; Xu R; Ye W; Rao J; Guo X; Sun J; Cao H; Ye C; Beusekom Jv; Espeseth T; Flindt E; Friborg RM; Halager AE; Le Hellard S; Hultman CM; Lescai F; Li S; Lund O; Løngren P; Mailund T; Matey-Hernandez ML; Mors O; Pedersen CN; Sicheritz-Pontén T; Sullivan P; Syed A; Westergaard D; Yadav R; Li N; Xu X; Hansen T; Krogh A; Bolund L; Sørensen TI; Pedersen O; Gupta R; Rasmussen S; Besenbacher S; Børglum AD; Wang J; Eiberg H; Kristiansen K; Brunak S; Schierup MH
  • Genome Res 2017[Sep]; 27 (9): 1597-607 PMID28774965show ga
  • Genes in the major histocompatibility complex (MHC, also known as HLA) play a critical role in the immune response and variation within the extended 4-Mb region shows association with major risks of many diseases. Yet, deciphering the underlying causes of these associations is difficult because the MHC is the most polymorphic region of the genome with a complex linkage disequilibrium structure. Here, we reconstruct full MHC haplotypes from de novo assembled trios without relying on a reference genome and perform evolutionary analyses. We report 100 full MHC haplotypes and call a large set of structural variants in the regions for future use in imputation with GWAS data. We also present the first complete analysis of the recombination landscape in the entire region and show how balancing selection at classical genes have linked effects on the frequency of variants throughout the region.
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