Article
Novel variation and de novo mutation rates in population-wide de novo assembled Danish trios.
Nature communications - 19 Jan 2015
Besenbacher Søren, Liu Siyang, Izarzugaza José M G, Grove Jakob, Belling Kirstine, Bork-Jensen Jette, Huang Shujia, Als Thomas D, 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 David, Rydza Emil, Rapacki Kristoffer, Damm Sørensen John, Chmura Piotr, 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, Wang Jun, Gupta Ramneek, Villesen Palle, Rasmussen Simon
Abstract excerpt
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. Here we report a Danish pan-genome obtained from sequencing 10 trios to high depth (50 × ). We report 536k novel SNVs and 283k novel short indels from mapping...
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