Dr. Mert Pekerbas represented RareBoost at ASHG 2025 Annual Meeting in Boston

The ASHG (American Society of Human Genetics) Annual Meeting, one of the most significant global scientific events in human genetics, was held from October 14–18, 2025, in Boston, USA. Representing the RareBoost project team, Medical Genetics Specialist Dr. Mert Pekerbaş attended this premier scientific summit, which showcased the latest advancements in rare disease research and genetic diagnostic methods.

Dr. Pekerbaş made an active scientific contribution by presenting a poster titled “Whole Genome Sequencing of Cardiac Biopsy Reveals a Single Large-Scale Mitochondrial DNA Deletion Missed in Blood Testing.” The presentation described a unique patient case diagnosed using whole genome analysis, representing a patient type not previously reported in the literature.

By closely following the cutting-edge developments and discussions at the conference, Dr. Pekerbaş ensured effective knowledge transfer by sharing the key insights with his RareBoost teammates through a detailed presentation.