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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Foilsithe in: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.
Formáid: Artigo
Teanga:Inglês
Foilsithe: BioMed Central 2017
Ábhair:
Research
Rochtain Ar Líne: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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