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Project

Long Read Sequencing for the detection of cryptic Structural Variation in patients with intellectual disability and congenital anomalies

Information

Project Team

Organisations

Outputs and Outcomes

Publications

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

Laurenz De CockErika D'haenensLies VantommeLynn BackersAude BeyensKathleen ClaesGriet De ClercqRobin de PutterCandy KumpsNika SchuermansJo SourbronHannes SyrynSimon TavernierEva VanbelleghemOlivier VanakkerBart VandekerckhoveTim Van DammeBert CallewaertAnnelies DheedeneSarah VergultBjörn Menten et al.

A1 Journal Article in NPJ GENOMIC MEDICINE

2025

Full characterization of unresolved structural variation through long-read sequencing and optical genome mapping

Griet De ClercqLies VantommeBarbara DewaeleBert CallewaertOlivier VanakkerSandra JanssensBart LoeysMojca StrazisarWouter De CosterJoris Robert VermeeschAnnelies DheedeneBjörn Menten et al.

A1 Journal Article in SCIENTIFIC REPORTS

2024