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

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Figure

Fig. 1 The diverse landscape of SV in participants with ASD and other developmental disorders
Fig. 2 Classifying 16 recurrent subclasses of large, complex SVs in the human genome. At liWGS resolution, we identified 16 recurrent classes ofcxSV, defined here as non-canonical rearrangements involving two or more distinct SV signatures or at least thre
Fig. 3 liWGS and lrWGS resolved areciprocal translocation with three breakpoints between chromosomes 2 (predicted to result in LoF ofb de novo gene-disrupting cxSV that was cryptic to standard siWGS
Fig. 4 Rare SVs are enriched for hallmarks of deleterious biological outcomes. Comparing all rare (VF < 1%) and common (VF > 1%) SVs discovered in thisat least one LoF mutation due to a rare SV were enriched in many subcategories when compared to common SV
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