3billion is selected for oral presentation in ASHG 2023
- Grant | 23. 11. 02
3billion is participating in the American Society of Human Genetics (ASHG) Annual Conference 2023 in Washington, DC, USA, for five days from Nov. 1 to 5, presenting five studies.
The result of a clinical study of 19,000 patients with rare diseases of different races in 50 countries has been selected for an oral presentation. It is noteworthy in that it provides a direction on how to effectively offer diagnosis of patients with rare diseases of different races at a time when global genomic research is focused on Caucasians and lacks reference data for diagnosis.
In addition, the study that completed the diagnosis through the interpretation of 10,000 WGS (Electro genomes) of Korean patients with rare diseases and their families was selected as a “Reviewers’ choice” by the ASHG’s committee.
In addition, 5,000 Korean WGS data will be used to present a total of five studies, including measuring the prevalence of febrile genetic diseases in the Korean group, a case study diagnosed as gene loss penetrating three genes in pediatric patients with various symptoms, and discovering new disease-causing genetic mutations in six genes in patients with rare diseases with cognitive impairment in Pakistan.
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