Main menu

Long-read sequencing to resolve the parent of origin of a de novo pathogenic UBE3A variant

Get startedSubscribe
Return to Resources
Authors: Christopher Mark Watson, Lucy Jackson, Laura A Crinnion, David T Bonthron, Eamonn Sheridan
Read the full text
  • Published on: April 12 2022
  • Source: Journal of Medical Genetics

Getting started

Buy a MinION starter pack Nanopore store Sequencing service providers Channel partners

Quick links

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

About Oxford Nanopore

Contact us News Media resources & contacts Investor centre Careers BSI 27001 accreditationBSI 90001 accreditationBSI mark of trust

© 2008 - 2025 Oxford Nanopore Technologies plc. All rights reserved. Registered Office: Gosling Building, Edmund Halley Road, Oxford Science Park, OX4 4DQ, UK | Registered No. 05386273 | VAT No 336942382. Oxford Nanopore Technologies, the Wheel icon, EPI2ME, Flongle, GridION, Metrichor, MinION, MinIT, MinKNOW, Plongle, PromethION, SmidgION, Ubik and VolTRAX are registered trademarks of Oxford Nanopore Technologies plc in various countries. Oxford Nanopore Technologies products are not intended for use for health assessment or to diagnose, treat, mitigate, cure, or prevent any disease or condition.

ONT plc is a member of the producer compliance scheme run by ERP UK Ltd, who manage the submission of documentation in support of WEEE compliance for ONT plc’s manufacture and supply of Electrical and Electronic equipment in the UK.

ONT’s WEEE PRN is WEE/MM3828AA. See attached certificate for the submission period 2022.

Spanish flag