Diversity in non-repetitive human sequences not found in the reference genome-Reference-Cited by-同舟云学术

Diversity in non-repetitive human sequences not found in the reference genome

Published:2017-02-27 Issue:4 Volume:49 Page:588-593
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Kehr Birte,Helgadottir Anna,Melsted Pall,Jonsson Hakon^ORCID,Helgason Hannes,Jonasdottir Adalbjörg,Jonasdottir Aslaug,Sigurdsson Asgeir,Gylfason Arnaldur,Halldorsson Gisli H,Kristmundsdottir Snaedis,Thorgeirsson Gudmundur^ORCID,Olafsson Isleifur,Holm Hilma,Thorsteinsdottir Unnur,Sulem Patrick^ORCID,Helgason Agnar,Gudbjartsson Daniel F,Halldorsson Bjarni V^ORCID,Stefansson Kari

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.3801.pdf

Reference52 articles.

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3. Kloosterman, W.P. et al. Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline. Hum. Mol. Genet. 20, 1916–1924 (2011).

4. Chaisson, M.J.P. et al. Resolving the complexity of the human genome using single-molecule sequencing. Nature 517, 608–611 (2014).

5. Hehir-Kwa, J.Y. et al. A high-quality human reference panel reveals the complexity and distribution of genomic structural variants. Nat. Commun. 7, 12989 (2016).

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