Long-read nanopore DNA sequencing can resolve complex intragenic duplication/deletion variants, providing information to enable preimplantation genetic diagnosis.

Christopher Mark WatsonDeborah L HollidayLaura A CrinnionDavid T Bonthron

Published in: Prenatal diagnosis (2022)

Our experience demonstrates the diagnostic utility of long-read technology for the precise characterisation of structural variants, and highlights how this technology can be efficiently deployed to enable onward referral to reproductive medicine services.

Keyphrases

single molecule
copy number
primary care
healthcare
genome wide
single cell
mental health
circulating tumor
cell free
health information
gene expression
social media
affordable care act