Mapping and characterization of structural variation in 17,795 human genomes-Reference-Cited by-同舟云学术

Mapping and characterization of structural variation in 17,795 human genomes

Published:2020-05-27 Issue:7814 Volume:583 Page:83-89
ISSN:0028-0836
Container-title:Nature
language:en
Short-container-title:Nature

Author:

Abel Haley J., ,Larson David E.^ORCID,Regier Allison A.,Chiang Colby^ORCID,Das Indraniel,Kanchi Krishna L.,Layer Ryan M.^ORCID,Neale Benjamin M.^ORCID,Salerno William J.,Reeves Catherine^ORCID,Buyske Steven^ORCID,Matise Tara C.^ORCID,Muzny Donna M.,Zody Michael C.,Lander Eric S.,Dutcher Susan K.^ORCID,Stitziel Nathan O.,Hall Ira M.^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/s41586-020-2371-0.pdf

Reference73 articles.

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2. Weischenfeldt, J., Symmons, O., Spitz, F. & Korbel, J. O. Phenotypic impact of genomic structural variation: insights from and for human disease. Nat. Rev. Genet. 14, 125–138 (2013).

3. Stranger, B. E. et al. Relative impact of nucleotide and copy number variation on gene expression phenotypes. Science 315, 848–853 (2007).

4. Chiang, C. et al. The impact of structural variation on human gene expression. Nat. Genet. 49, 692–699 (2017).

5. Sudmant, P. H. et al. An integrated map of structural variation in 2,504 human genomes. Nature 526, 75–81 (2015).

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