Generation of quartet reference materials for preimplantation genetic testing for structural rearrangements

Key Points

• The aim is to create well-characterized reference materials for preimplantation genetic testing focused on structural rearrangements.
• Developed a panel of quartet reference materials for PGT-SR
• Ensured materials are renewable and publicly accessible
• Established methods adaptable for various preimplantation genetic tests
• Reference materials enhance proficiency testing for structural rearrangement detection
• Support quality assurance in genetic testing
• Methods may benefit advancements in assisted reproduction techniques