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Diagnosis and Phenotype Characterisation Using Genomics in Patients With Inherited Bone Marrow Failure (IBMDx Study)
Sponsor: Peter MacCallum Cancer Centre, Australia
Summary
This project seeks to perform whole genome sequence (WGS) and whole transcriptome sequence (WTS) analysis on 350 patients with suspected inherited bone marrow failure syndromes and related disorder (IBMFS-RD) in order to increase the genomic diagnostic rate in IBMFS.
Official title: Diagnosis, Discovery and Novel Phenotype Characterisation Using Multimodal Genomics in Patients With Inherited Bone Marrow Failure and Related Disorders (IBMDx Study)
Key Details
Gender
All
Age Range
3 Months - Any
Study Type
OBSERVATIONAL
Enrollment
350
Start Date
2022-03-18
Completion Date
2025-12
Last Updated
2024-11-07
Healthy Volunteers
No
Interventions
whole genome and transcriptome sequencing
To perform whole genome/transcriptome analysis of patients in a cohort of up to 350 Australian patients with IBMFS-RD
Locations (1)
Peter MacCallum Cancer Centre
Melbourne, Victoria, Australia