Main menu

London Calling 2023: The potential use of nanopore sequencing for routine molecular diagnosis of germline cancer predisposition


Recently, we have started to explore nanopore sequencing using GridION. We are performing technological assessments on 24 clinical germline cancer samples carrying abnormalities on BRCA1, BRCA2, PALB2, and MLH1 to test methylation status, large-scale rearrangements (LSR), and single-nucleotide variants. We have used adaptive sampling to enrich our target region of more than 150 cancer predisposition genes and used R10.4.1 Flow Cells and Q20+ chemistry for this experiment. After setting up the critical pre-analytical processes (DNA extraction and library prep) and optimizing the experimental workflow, the initial results are promising. We have been able to enrich our region of interest and show that  adaptive sampling did not induce any bias in the read depth among the different chromosomes.

Authors: Romain Boidot

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