Login / Signup

Increased Sensitivity of Diagnostic Mutation Detection by Re-analysis Incorporating Local Reassembly of Sequence Reads.

Christopher Mark WatsonNick CammLaura A CrinnionSamuel ClokieRachel L RobinsonJulian AdlardRuth CharltonAlexander F MarkhamIan M CarrDavid T Bonthron
Published in: Molecular diagnosis & therapy (2018)
This work highlights the need for ongoing development of diagnostic pipelines to maximize test sensitivity. We also draw attention to the large differences in computational infrastructure required to perform day-to-day versus large-scale reprocessing tasks.
Keyphrases
  • working memory
  • loop mediated isothermal amplification
  • upper limb