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  • Herein, we report a new integrative approach, called DELLY, that combines short-range and long-range paired-end mapping and split-read analysis for the discovery-at single nucleotide resolution-of balanced and unbalanced forms of structural variation, i.e. deletions, tandem duplications, inversions and translocations, achieving high sensitivity and specificity throughout the genome and for SVs falling into a wide size spectrum.
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