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Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome
Published Web Locationhttp://europepmc.org/articles/PMC5338099?pdf=render
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© 2017 The Author(s).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 sequence
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