Assembly and analysis of 100 full MHC haplotypes from the Danish population

Autor: Jensen, Jacob M., Villesen, Palle, Friborg, Rune M., Mailund, Thomas, Besenbacher, Søren, Sørensen, Lasse Maretty, Petersen, Bent, Sibbesen, Jonas Andreas, Liu, Siyang, Skov, Laurits, Belling, Kirstine G, Have, Christian Theil, Izarzugaza, Jose M. G., Grosjean, Marie, Bork-Jensen, Jette, Grove, Jakob, Als, Thomas D., Huang, Shujia, Chang, Yuqi, Xu, Ruiqi, Ye, Weijian, Rao, Junhua, Guo, Xiaosen, Sun, Jihua, Cao, Hongzhi, Ye, Chen, Beusekom, Johan V., Espeseth, Thomas, Flindt, Esben, Halager, Anders E., Hellard, Stephanie Le, Hultman, Christina M., Lescai, Francesco, Li, Shengting, Lund, Ole, Løngren, Peter, Matey-Hernandez, Maria Luisa, Mors, Ole, Pedersen, Christian N. S., Sicheritz-Pontén, Thomas, Sullivan, Patrick, Syed, Ali, Westergaard, David, Yadav, Rachita, Li, Ning, Xu, Xun, Hansen, Torben, Bolund, Lars, Krogh, Anders, Sørensen, Thorkild I. A., Pedersen, Oluf Borbye, Gupta, Ramneek, Rasmussen, Simon, Børglum, Anders D., Wang, Jun, Eiberg, Hans Rudolf Lytchoff, Kristiansen, Karsten, Brunak, Søren, Schierup, Mikkel Heide

Publikováno v: Jensen, J M, Villesen, P, Friborg, R M, Mailund, T, Besenbacher, S, Sørensen, L M, Petersen, B, Sibbesen, J A, Liu, S, Skov, L, Belling, K G, Have, C T, Izarzugaza, J M G, Grosjean, M, Bork-Jensen, J, Grove, J, Als, T D, Huang, S, Chang, Y, Xu, R, Ye, W, Rao, J, Guo, X, Sun, J, Cao, H, Ye, C, Beusekom, J V, Espeseth, T, Flindt, E, Halager, A E, Hellard, S L, Hultman, C M, Lescai, F, Li, S, Lund, O, Løngren, P, Matey-Hernandez, M L, Mors, O, Pedersen, C N S, Sicheritz-Pontén, T, Sullivan, P, Syed, A, Westergaard, D, Yadav, R, Li, N, Xu, X, Hansen, T, Bolund, L, Krogh, A, Sørensen, T I A, Pedersen, O B, Gupta, R, Rasmussen, S, Børglum, A D, Wang, J, Eiberg, H R L, Kristiansen, K, Brunak, S & Schierup, M H 2017, ' Assembly and analysis of 100 full MHC haplotypes from the Danish population ', Genome Research, vol. 27, no. 9, pp. 1597-1607 . https://doi.org/10.1101/gr.218891.116
Jensen, J M, Villesen, P, Friborg, R M, Mailund, T, Besenbacher, S, Schierup, M H & Danish Pan-Genome Consortium (Jakob Grove, member of-) 2017, ' Assembly and analysis of 100 full MHC haplotypes from the Danish population ', Genome Research, pp. 1597-1607 . https://doi.org/10.1101/gr.218891.116

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 caus

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7f168d7a40a43d4225d5ed22aeb66cb
https://doi.org/10.1101/gr.218891.116

Analysis of 62 hybrid assembled human Y chromosomes exposes rapid structural changes and high rates of gene conversion

Autor: Gonzalez-Izarzugaza, Jose Maria, Skov, Laurits, Maretty, Lasse, Jensen, Jacob Malte, Petersen, Bent, Andreas Sibbesen, Jonas, Liu, Siyang, Villesen, Palle, Belling, Kirstine González-Izarzugaza, Theil Have, Christian, Grosjean, Marie, Bork-Jensen, Jette, Grove, Jakob, Als, Thomas D., Huang, Shujia, Chang, Yuqi, Xu, Ruiqi, Ye, Weijian, Rao, Junhua, Guo, Xiaosen, Sun, Jihua, Cao, Hongzhi, Ye, Chen, van Beusekom, Johan, Espeseth, Thomas, Flindt, Esben, Friborg, Rune M., Halager, Anders E., Le Hellard, Stephanie, Hultman, Christina M., Lescai, Francesco, Li, Shengting, Lund, Ole, Løngren, Peter, Mailund, Thomas, Matey-Hernandez, María Luisa, Mors, Ole, Pedersen, Christian N. S., Sicheritz-Pontén, Thomas, Sullivan, Patrick F., Qaswar Ali Shah, Syed, Westergaard, David, Yadav, Rachita, Li, Ning, Xu, Xun, Hansen, Torben, Krogh, Anders, Bolund, Lars, Sørensen, Thorkild I. A., Pedersen, Oluf, Gupta, Ramneek, Rasmussen, Simon, Besenbacher, Søren, Børglum, Anders D., Wang, Jun, Eiberg, Hans, Kristiansen, Karsten, Brunak, Søren, Schierup, Mikkel Heide

Publikováno v: Skov, L, Schierup, M H & Danish Pan Genome Consortium 2017, ' Analysis of 62 hybrid assembled human Y chromosomes exposes rapid structural changes and high rates of gene conversion ', P L o S Genetics (Online), vol. 13, no. 8, 1006834 . https://doi.org/10.1371/journal.pgen.1006834
PLoS Genetics
PLoS Genetics, Vol 13, Iss 8, p e1006834 (2017)
Gonzalez-Izarzugaza, J M, Skov, L, Maretty, L, Jensen, J M, Petersen, B, Andreas Sibbesen, J, Liu, S, Villesen, P, Belling, K G-I, Theil Have, C, Gonzalez-Izarzugaza, J M, Grosjean, M, Bork-Jensen, J, Grove, J, Als, T D, Huang, S, Chang, Y, Xu, R, Ye, W, Rao, J, Guo, X, Sun, J, Cao, H, Ye, C, van Beusekom, J, Espeseth, T, Flindt, E, Friborg, R M, Halager, A E, Le Hellard, S, Hultman, C M, Lescai, F, Li, S, Lund, O, Løngren, P, Mailund, T, Matey-Hernandez, M L, Mors, O, Pedersen, C N S, Sicheritz-Pontén, T, Sullivan, P F, Qaswar Ali Shah, S, Westergaard, D, Yadav, R, Li, N, Xu, X, Hansen, T, Krogh, A, Bolund, L, Sørensen, T I A, Pedersen, O, Gupta, R, Rasmussen, S, Besenbacher, S, Børglum, A D, Wang, J, Eiberg, H, Kristiansen, K, Brunak, S & Schierup, M H 2017, ' Analysis of 62 hybrid assembled human Y chromosomes exposes rapid structural changes and high rates of gene conversion ', P L o S Genetics, vol. 13, no. 8, e1006834 . https://doi.org/10.1371/journal.pgen.1006834

The human Y-chromosome does not recombine across its male-specific part and is therefore an excellent marker of human migrations. It also plays an important role in male fertility. However, its evolution is difficult to fully understand because of re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb762927df79990a5c1d6f9b9d03948c
https://pure.au.dk/ws/files/118727666/journal.pgen.1006834.pdf

Novel variation and de novo mutation rates in population-wide de novo assembled Danish trios

Autor: Besenbacher, Søren, Liu, Siyang, Gonzalez-Izarzugaza, Jose Maria, Grove, Jakob, Belling, Kirstine C., Bork-Jensen, Jette, Huang, Shujia, Dam-Als, Thomas, Li, Shengting, Yadav, Rachita, Rubio García, Arcadio, Lescai, Francesco, Demontis, Ditte, Rao, Junhua, Ye, Weijian, Mailund, Thomas, Friborg, Rune M., Pedersen, Christian N. S., Xu, Ruiqi, Sun, Jihua, Liu, Hao, Wang, Ou, Cheng, Xiaofang, Flores Santa Cruz, David, Rydza, Emil Karol, Rapacki, Kristoffer, Sørensen, John Damm, Chmura, Piotr Jaroslaw, Westergaard, David, Dworzynski, Piotr, Sørensen, Thorkild I. A., Lund, Ole, Hansen, Torben, Xu, Xun, Li, Ning, Bolund, Lars, Pedersen, Oluf, Eiberg, Hans, Krogh, Anders, Børglum, Anders D., Brunak, Søren, Kristiansen, Karsten, Schierup, Mikkel H, Jun, Wang, Gupta, Ramneek, Villesen, Palle, Rasmussen, Simon

Publikováno v: Besenbacher, S, Liu, S, Gonzalez-Izarzugaza, J M, Grove, J, Belling, K G, Bork-Jensen, J, Huang, S, Als, T D, Li, S, Yadav, R, Rubio García, A, Lescai, F, Demontis, D, Rao, J, Ye, W, Mailund, T, Møllegaard Friborg, R, Pedersen, C N S, Xu, R, Sun, J, Liu, H, Wang, O, Cheng, X, Flores, D, Rydza, E K, Rapacki, K, Sørensen, J D, Chmura, P J, Westergaard, D, Dworzynski, P, Sørensen, T I A, Lund, O, Hansen, T, Xu, X, Li, N, Bolund, L, Pedersen, O, Eiberg, H, Krogh, A, Børglum, A D, Brunak, S, Kristiansen, K, Schierup, M H, Wang, J, Gupta, R, Villesen, P & Rasmussen, S 2015, ' Novel variation and de novo mutation rates in population-wide de novo assembled Danish trios ', Nature Communications, vol. 6, 5969 . https://doi.org/10.1038/ncomms6969
Besenbacher, S, Liu, S, Izarzugaza, J M G, Grove, J, Belling, K, Bork-Jensen, J, Huang, S, Als, T D, Li, S, Yadav, R, Rubio-García, A, Lescai, F, Demontis, D, Rao, J, Ye, W, Mailund, T, Møllegaard Friborg, R, Pedersen, C N S, Xu, R, Sun, J, Liu, H, Wang, O, Cheng, X, Flores, D, Rydza, E, Rapacki, K, Damm Sørensen, J, Chmura, P, Westergaard, D, Dworzynski, P, Sørensen, T I A, Lund, O, Hansen, T, Xu, X, Li, N, Bolund, L, Pedersen, O, Eiberg, H, Krogh, A, Børglum, A D, Brunak, S, Kristiansen, K, Schierup, M H, Wang, J, Gupta, R, Villesen, P & Rasmussen, S 2015, ' Novel variation and de novo mutation rates in population-wide de novo assembled Danish trios ', Nature Communications, vol. 6, 5969 . https://doi.org/10.1038/ncomms6969
Besenbacher, S, Liu, S, Gonzalez-Izarzugaza, J M, Grove, J, Belling, K C, Bork-Jensen, J, Huang, S, Dam-Als, T, Li, S, Yadav, R, Yadav, R, Rubio García, A, Lescai, F, Demontis, D, Rao, J, Ye, W, Mailund, T, Friborg, R M, Pedersen, C N S, Xu, R, Sun, J, Liu, H, Wang, O, Cheng, X, Flores Santa Cruz, D, Rydza, E K, Rapacki, K, Sørensen, J D, Chmura, P J, Westergaard, D, Dworzynski, P, Sørensen, T I A, Lund, O, Hansen, T, Xu, X, Li, N, Bolund, L, Pedersen, O, Eiberg, H, Krogh, A, Børglum, A D, Brunak, S, Kristiansen, K, Schierup, M H, Jun, W, Gupta, R, Villesen, P & Rasmussen, S 2015, ' Novel variation and de novo mutation rates in population-wide de novo assembled Danish trios ', Nature Communications, vol. 6, 5969 . https://doi.org/10.1038/ncomms6969
Nature Communications
Besenbacher, S, Liu, S Y, Izarzugaza, J M G, Grove, J, Belling, K, Bork-Jensen, J, Huang, S J, Als, T D, Li, S T, Yadav, R, Rubio-Garcia, A, Lescai, F, Demontis, D, Rao, J H, Ye, W J, Mailund, T, Friborg, R M, Pedersen, C N S, Xu, R Q, Sun, J H, Liu, H, Wang, O, Cheng, X F, Flores, D, Rydza, E, Rapacki, K, Sorensen, J D, Chmura, P, Westergaard, D, Dworzynski, P, Sorensen, T I A, Lund, O, Hansen, T, Xu, X, Li, N, Bolund, L, Pedersen, O, Eiberg, H, Krogh, A, Borglum, A D, Brunak, S, Kristiansen, K, Schierup, M H, Wang, J, Gupta, R, Villesen, P & Rasmussen, S 2015, ' Novel variation and de novo mutation rates in population-wide de novo assembled Danish trios ', Nature Communications, vol. 6, 5969 . https://doi.org/10.1038/ncomms6969

Building a population-specific catalogue of single nucleotide variants (SNVs), indels and structural variants (SVs) with frequencies, termed a national pan-genome, is critical for further advancing clinical and public health genetics in large cohorts

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8475aae7efa12ed5e8e3e337954c27fd
https://curis.ku.dk/portal/da/publications/novel-variation-and-de-novo-mutation-rates-in-populationwide-de-novo-assembled-danish-trios(ee4e61b1-1b7a-4713-a8bf-b6a584a85eaa).html