27-12-2017 16:30 via genengnews.com

Hidden Structural Variations Emerge from Long Reads of a Complex Genome

Genomes assembled from shreds and patches may fail to represent all mutations, which include not only the single-nucleotide variants and small indels so ably detected by standard short-read sequencing methods, but also mutations that add, subtract, rearrange, or otherwise reconfigure genomic structures. Genomes more resplendent may be needed—genomes that are assembled from long reads. Such genomes, say scientists based at the University of California, Irvine, may embody relatively subtle s
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