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

March 2017

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

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.

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

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