Mapping and phasing of structural variation in patient genomes using nanopore sequencing
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DOI: 10.1038/s41467-017-01343-4
Abstract: Despite improvements in genomics technology, the detection of structural variants (SVs) from short-read sequencing still poses challenges, particularly for complex variation. Here we analyse the genomes of two patients with congenital abnormalities using the MinION… read more here.
Keywords: short read; variation; patient genomes; structural variants ... See more keywords