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Genomic analysis of adult thrombotic microangiopathies in less than 3 days: From rapid to fast genomics to treatment.

Nadhir YousfiCyril MousseauxAbderaouf HamzaPierre LavilleMarie MilleNicolas PhilippeMarine DancerChristophe BouderYosu LuqueCédric RafatLaurent Mesnard
Published in: Blood (2024)
Using nanopore sequencing, we showed feasibility and impact of rapid genomic screening for managing thrombotic microangiopathies (TMAs) in 18 prospective cases, achieving diagnoses in less than three days. We compared results to standard exome sequencing, cost-efficiency and complement blockade initiation.
Keyphrases
  • single cell
  • copy number
  • loop mediated isothermal amplification
  • combination therapy
  • dna methylation
  • genome wide
  • solid state