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Structural variants characterized in the human genome

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Structural variants characterized in the human genome

The human genome differs from person to person. In the DNA sequence, for example, individual "letters", so-called nucleotides, are altered. Even greater differences result from structural variants that arise when large DNA segments are inserted, deleted or moved. As part of a global team of researchers, bioinformaticians at Saarland University have studied these differences in more detail and comprehensively characterized the structural variants in three families. The scientists have thus created a basis for systematically exploring the consequences of these genetic variants. The results have been published in Nature Communications.

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