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Rapid Automated Large Structural Variation Detection in a Diploid Genome by NanoChannel Based Next-Generation Mapping

Alex R Hastie,Ernest T Lam,Andy Wing Chun Pang, Xinyue Zhang,Warren Andrews,Joyce Lee,Tiffany Y Liang,Jian Wang,Xiang Zhou,Zhanyang Zhu,Thomas Anantharaman,Željko Džakula,Sven Bocklandt,Urvashi Surti,Michael Saghbini,Michael D. Austin, Mark Borodkin, R. Erik Holmlin,Han Cao

biorxiv（2017）

Cited 21|Views132
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Abstract
The human genome is diploid with one haploid genome inherited from the maternal and one from the paternal lineage. Within each haploid genome, large structural variants such as deletions, duplications, inversions, and translocations are extensively present and many are known to affect biological
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