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

BACKGROUND: Structural variation (SV) influences genome organization and contributes to human disease. However, the complete mutational spectrum of SV has not been routinely captured in disease association studies. RESULTS: We sequenced 689 participants with autism spectrum disorder (ASD) and other...

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Bibliografiske detaljer
Udgivet i:Genome Biol
Main Authors: 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.
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2017
Fag:
Research
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5338099/
https://ncbi.nlm.nih.gov/pubmed/28260531
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13059-017-1158-6
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