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


Journal

Blood
ISSN: 1528-0020
Titre abrégé: Blood
Pays: United States
ID NLM: 7603509

Informations de publication

Date de publication:
28 Aug 2024
Historique:
accepted: 07 08 2024
received: 15 04 2024
revised: 07 08 2024
medline: 29 8 2024
pubmed: 29 8 2024
entrez: 28 8 2024
Statut: aheadofprint

Résumé

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.

Identifiants

pubmed: 39197070
pii: 517605
doi: 10.1182/blood.2024024976
pii:
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

Copyright © 2024 American Society of Hematology.

Auteurs

Nadhir Yousfi (N)

INSERM U1155, Paris, France.

Cyril Mousseaux (C)

Unité Mixte de Recherche S1155, France.

Abderaouf Hamza (A)

Institut Curie, Paris, France.

Pierre Laville (P)

Unité Mixte de Recherche S1155, France.

Marie Mille (M)

SeqOne Genomics, Montpellier, France.

Nicolas Philippe (N)

SeqOne Genomics, Montpellier, France.

Marine Dancer (M)

Institut Curie, PSL Research University, France.

Christophe Bouder (C)

Sorbonne Universite, Paris, France.

Yosu Luque (Y)

Unité Mixte de Recherche S1155, France.

Cédric Rafat (C)

Unité Mixte de Recherche S1155, France.

Laurent Mesnard (L)

Unité Mixte de Recherche S1155, France.

Classifications MeSH