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

March 2017

Authors:
Ryan Collins, Harrison Brand, Claire Redin, Carrie Hanscom, et al.

Info:
Scientists at Harvard and other institutions sequenced nearly 700 individuals with autism spectrum disorder to build a comprehensive map of large structural variants. More than a third of the variants detected are novel. BluePippin was used to size-select libraries prior to library construction for 10x Genomics analysis.

Citation:
Genome Biology (2017) 18:36
DOI 10.1186/s13059-017-1158-6

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