Main menu

London Calling 2023: The potential clinical utility of amplicon and targeted nanopore sequencing for rare disease diagnosis


Next-generation sequencing has driven research into rare diseases and molecular diagnostics for over a decade. Up to 45% of inherited retinal disease patients remain unsolved after clinical testing, with variants of uncertain significance (VUS), non-coding variants, whole-genome sequencing (WGS) intractable genes, and structural rearrangements thought to contribute.

We investigated the potential clinical utility of nanopore sequencing in a case-driven study to improve the detection and characterisation of variants in WGS unsolved patients recruited from the Inherited Eye Disease clinics at Moorfields Eye Hospital. Amplicon sequencing of retinal gene transcripts from patient blood demonstrated the previously undetectable splicing effect of coding and non-coding VUS. Targeted nanopore sequencing enabled read-through of the WGS-intractable OPN1LW/OPN1MW gene array, distant variant phasing, and detection of structural rearrangement. Nanopore sequencing is effective where traditional methods have failed to conclude diagnostic odysseys and may be an effective tool in the battery of molecular diagnostic tests.

Authors: Gavin Arno

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

纳米孔技术

订阅 Nanopore 更新 资源库及发表刊物 什么是 Nanopore 社区

关于 Oxford Nanopore

新闻 公司历程 可持续发展 领导团队 媒体资源和联系方式 投资者 合作者 在 Oxford Nanopore 工作 职位空缺 商业信息 BSI 27001 accreditationBSI 90001 accreditationBSI mark of trust
Chinese flag