Main menu

Human structural variation identified by Oxford Nanopore PromethION


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).

Download the PDF

入门指南

购买 MinION 启动包 Nanopore 商城 测序服务提供商 全球代理商

联系我们

Intellectual property Cookie policy Corporate reporting Privacy policy Terms & conditions Accessibility

关于 Oxford Nanopore

Contact us 领导团队 媒体资源和联系方式 投资者 在 Oxford Nanopore 工作 BSI 27001 accreditationBSI 90001 accreditationBSI mark of trust
Chinese flag