Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders.

Kevin RiquinBertrand IsidorSandra MercierMathilde NizonEstelle ColinDominique BonneauLaurent PasquierSylvie OdentXavier Maximin Le Guillou HornGwenaël Le GuyaderAnnick ToutainVincent MeyerJean-François DeleuzeOlivier PichonMartine Doco-FenzyStéphane BézieauBenjamin Cogné

Published in: Journal of medical genetics (2023)

Our study confirmed that GS significantly improves the diagnostic performance of NDDs. However, most variants detectable by GS alone are structural or located in non-coding regions, which can pose challenges for interpretation. Integration of RNA-Seq data overcame this limitation by confirming the impact of variants at the transcriptional or regulatory level. This result paves the way for new routinely applicable diagnostic protocols.

Keyphrases

rna seq
single cell
copy number
electronic health record
transcription factor
gene expression
genome wide
machine learning
heat shock protein