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

Genome biology(2017)

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摘要
These data provide a foundational map of large SV in the morbid human genome and demonstrate a previously underappreciated abundance and diversity of cxSV that should be considered in genomic studies of human disease.
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关键词
Autism,Chromoanagenesis,Chromothripsis,Complex chromosomal rearrangement,Copynumber variation,Germline mutation,Inversion,Neurodevelopmental disorders,Structural variation,Whole-genome sequencing
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