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

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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