Human structural variation identified by Oxford Nanopore PromethION
- Published on: October 24 2018
- Source: ASHG 2018
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The majority of the structural variants in the genome, defined as changes in copy number or location of elements > 50 bp, remain hidden with currently dominant technologies. Long read sequencing has the advantage of a higher mappability, the ability to span breakpoints and align uniquely to repetitive sequences. For benchmarking and evaluation of tools we have sequenced the Yoruban reference genome NA19240, part of the HapMap and 1000 genomes project and well characterized using modern technologies, allowing independent validation of our findings. We reached 258 gigabase or 80x coverage and our data is publicly available on ENA (PRJEB26791).
