Main menu

Repeat expansions

Span tandem repeats in a single read

Tandem repeats (TRs) are continuously repeated bases and are a type of structural variant (SV). TR expansions are important genetic aberrations that are associated with over 50 neurodegenerative disorders. The study of such diseases requires accurate size determination of the expanded repeat, which has proven to be challenging with legacy sequencing methods such as short-read sequencing. Oxford Nanopore sequencing generates reads of unrestricted length that can span repeat expansions end to end in single reads without the need for PCR, enabling unambiguous size determination.

Resolving repetitive regions with Oxford Nanopore sequencing

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