Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome-Reference-Cited by-同舟云学术

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Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

Published:2017-03-06 Issue:1 Volume:18 Page:
ISSN:1474-760X
Container-title:Genome Biology
language:en
Short-container-title:Genome Biol

Author:

Collins Ryan L.,Brand Harrison,Redin Claire E.,Hanscom Carrie,Antolik Caroline,Stone Matthew R.,Glessner Joseph T.,Mason Tamara,Pregno Giulia,Dorrani Naghmeh,Mandrile Giorgia,Giachino Daniela,Perrin Danielle,Walsh Cole,Cipicchio Michelle,Costello Maura,Stortchevoi Alexei,An Joon-Yong,Currall Benjamin B.,Seabra Catarina M.,Ragavendran Ashok,Margolin Lauren,Martinez-Agosto Julian A.,Lucente Diane,Levy Brynn,Sanders Stephan J.,Wapner Ronald J.,Quintero-Rivera Fabiola,Kloosterman Wigard,Talkowski Michael E.

Funder

Simons Foundation

Nancy Lurie Marks Family Foundation

March of Dimes Foundation

Charles H. Hood Foundation

National Alliance for Research on Schizophrenia and Depression

National Institutes of Health

National Human Genome Research Institute

Publisher

Springer Science and Business Media LLC

Link

http://link.springer.com/content/pdf/10.1186/s13059-017-1158-6.pdf

Reference115 articles.

1. Sudmant PH, Rausch T, Gardner EJ, Handsaker RE, Abyzov A, Huddleston J, et al. An integrated map of structural variation in 2,504 human genomes. Nature. 2015;526:75–81.

2. Feuk L, Carson AR, Scherer SW. Structural variation in the human genome. Nat Rev Genet. 2006;7:85–97.

3. Alkan C, Coe BP, Eichler EE. Genome structural variation discovery and genotyping. Nat Rev Genet. 2011;12:363–76.

4. Brand H, Collins RL, Hanscom C, Rosenfeld JA, Pillalamarri V, Stone MR, et al. Paired-duplication signatures mark cryptic inversions and other complex structural variation. Am J Hum Genet. 2015;97:170–6.

5. Brand H, Pillalamarri V, Collins RL, Eggert S, O’Dushlaine C, Braaten EB, et al. Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders. Am J Hum Genet. 2014;95:454–61.

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