2025 ACMG Annual Clinical Genetics Meeting

2025 ACMG Annual Clinical Genetics Meeting

March 18 – 22 | Los Angeles, California

The 2025 ACMG Annual Clinical Genetics Meeting will gather members of the medical genetics community from around the world to learn, connect and celebrate together in Los Angeles, California. This four-day meeting offers unique and valuable opportunities to forge meaningful connections, share interests and celebrate achievements, while hearing about new discoveries in genetic disorders, rare diseases, genome sequencing, gene therapies and best practices in genetic counseling.

Registration, housing, and abstract submission open on October 1, 2024. To learn more and stay updated on meeting information, visit the ACMG meeting website. Please note: Registration is required.

Scientists release a new human “pangenome” reference

Posted on by Alexis

Researchers have released a new high-quality collection of reference human genome sequences that captures substantially more diversity from different human populations than what was previously available. The work was led by the international Human Pangenome Reference Consortium, a group funded by the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health.

The new “pangenome” reference includes genome sequences of 47 people, with the researchers pursuing the goal of increasing that number to 350 by mid-2024. With each person carrying a paired set of chromosomes, the current reference actually includes 94 distinct genome sequences, with a goal of reaching 700 distinct genome sequences by the completion of the project.

Read the full press release on the NHGRI website.