Ena-DATASET-DTU-01-02-2017-10:47:25:397-764 - samples
Ontology highlight
ABSTRACT:
PROVIDER: EGAD00001003157 | EGA |
REPOSITORIES: EGA
Publications
Sequencing and de novo assembly of 150 genomes from Denmark as a population reference.
Maretty Lasse L Jensen Jacob Malte JM Petersen Bent B Sibbesen Jonas Andreas JA Liu Siyang S Villesen Palle P Skov Laurits L Belling Kirstine K Theil Have Christian C Izarzugaza Jose M G JMG Grosjean Marie M Bork-Jensen Jette J Grove Jakob J Als Thomas D TD Huang Shujia S Chang Yuqi Y Xu Ruiqi R Ye Weijian W Rao Junhua J Guo Xiaosen X Sun Jihua J Cao Hongzhi H Ye Chen C van Beusekom Johan J Espeseth Thomas T Flindt Esben E Friborg Rune M RM Halager Anders E AE Le Hellard Stephanie S Hultman Christina M CM Lescai Francesco F Li Shengting S Lund Ole O Løngren Peter P Mailund Thomas T Matey-Hernandez Maria Luisa ML Mors Ole O Pedersen Christian N S CNS Sicheritz-Pontén Thomas T Sullivan Patrick P Syed Ali A Westergaard David D Yadav Rachita R Li Ning N Xu Xun X Hansen Torben T Krogh Anders A Bolund Lars L Sørensen Thorkild I A TIA Pedersen Oluf O Gupta Ramneek R Rasmussen Simon S Besenbacher Søren S Børglum Anders D AD Wang Jun J Eiberg Hans H Kristiansen Karsten K Brunak Søren S Schierup Mikkel Heide MH
Nature 20170726 7665
Hundreds of thousands of human genomes are now being sequenced to characterize genetic variation and use this information to augment association mapping studies of complex disorders and other phenotypic traits. Genetic variation is identified mainly by mapping short reads to the reference genome or by performing local assembly. However, these approaches are biased against discovery of structural variants and variation in the more complex parts of the genome. Hence, large-scale de novo assembly i ...[more]
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