Cracking rare disorders: a new minimally invasive RNA-seq protocol

Cracking rare disorders: a new minimally invasive RNA-seq protocol

Abstract RNA sequencing (RNA-seq) has become key to complementing exome and genome sequencing for variant interpretation. We present a minimally invasive RNA-seq protocol using short-term cultured peripheral blood mononuclear cells (PBMCs) with and without cycloheximide treatment, enabling detection...

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Main Authors: Laurenz De Cock, Erika D’haenens, Lies Vantomme, Lynn Backers, Aude Beyens, Kathleen BM Claes, Griet De Clercq, Robin de Putter, Candy Kumps, Nika Schuermans, Jo Sourbron, Hannes Syryn, Simon Tavernier, Eva Vanbelleghem, Olivier Vanakker, Bart Vandekerckhove, Tim Van Damme, Bert Callewaert, Annelies Dheedene, Sarah Vergult, Björn Menten
Format: Article
Language:English
Published: Nature Portfolio 2025-05-01
Series:npj Genomic Medicine
Online Access:https://doi.org/10.1038/s41525-025-00502-7
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