3billion to disclose rare disease diagnostic research at genetics meet in LA

3billion, a company specializing in genetic diagnostics for rare diseases, said on Tuesday that it will reveal its research results at the annual American Society of Human Genetics (ASHG) conference in Los Angeles, the U.S., from Oct. 24-28.

The ASHG annual conference is the world's largest conference in human genetics and genome research which is usually attended by more than 6,000 researchers in the field of genetics who present their research results.

At this year’s conference, 3billion’s Chief Genomics Officer Dr. Hane Lee will introduce the company and briefly summarize the results of the whole-genome sequencing (WGS) of patients with rare diseases, conducted by 3billion as part of the National Project of Bio Big Data, said a company official.

In addition, four researchers from 3billion's bioinformatics team, artificial intelligence (AI) team, web development team, and clinical genetics team will also present study results regarding AI technology for rare disease diagnosis, diagnosis improvement methods, and patient diagnosis cases.

According to the company, advanced technologies that can improve the diagnosis of rare diseases and Korea's national project achievements have already started attracting the attention of many researchers even before the conference.

In particular, the results of the study on "how to improve the diagnosis of rare diseases in underrepresented population groups" received excellent reviewer scores and was selected as the "Reviewers' Choice" ahead of the conference.