Couldn’t attend the powerful TED -style talks at #ACMGMtg25? Watch now: bit.ly/4jRdomz. Want more? Get 60+ hours of ACMG Annual Meeting content on demand with the Digital Edition: bit.ly/DigEd25 #MedicalEducation

Couldn’t attend #ACMGMtg25 or want to revisit top moments? The Digital Edition offers on-demand access to session videos and slides starting 4/21. Claim educational credits through March 2027. Discounts available for ACMG members, trainees/fellows/residents & others. bit.ly/DigEd25

Los Angeles Kids Receive Free Adapted Bikes on World Down Syndrome Day - The San Fernando Valley Sun On World Down Syndrome Day, observed annually on March 21, children of all ages from across Los Angeles received very special gifts: adapted bicycles of various sizes and styles. The […]

Thank you, San Fernando Valley Sun, for this article about Jeremiah and his family - and the other kids and families from Down Syndrome Association of Los Angeles who participated in the #ACMGFoundation Day of Caring on March 21 at the LA Convention Center. #ACMGMtg25

Read: bit.ly/sanfernandos...

#ACMGmtg25 Podcast Recap Released! 🌴🧬🌴

🎙️ Host @kiradineen.bsky.social & Karl Krahn reflect on their first ACMG experience.

🎧 Listen now by searching 'DNA Today' in your podcast app or here: dnapodcast.com/episodes/202...

@theacmg.bsky.social @denadna.bsky.social

Challenge the experts is consistently one of the best sessions at #ACMGMtg25 if not all conferences I regularly attend; always a fun, interesting session to attend!

The #ACMGFoundation Day of Caring is, for many, a highlight of the ACMG Annual Clinical Genetics Meeting. We invite you to take a moment to watch the video from today’s Day of Caring at #ACMGMtg25 and see the joy in the children’s faces: youtu.be/DMGm6GRncuU

Thank you to everyone who joined us at #ACMGMtg25!

From insightful conversations at our booth to last night’s networking happy hour, we loved connecting with you. Exciting discussions on long-read sequencing and clinical genomics are shaping the future—let’s keep the momentum going! #PacBio

👩‍💻Dr. Nina Gold is gearing up to present virtually at #ACMGMtg25 today!

Tune in as she dives into the power of a genotype-first approach and what it reveals about treatable monogenic disorders. 🧬
Underdiagnosis? Incomplete penetrance? Not on her watch! 🙅‍♀️

Don’t miss it!

Come see me at #ACMGMtg25 #ACMG P636: Implementing Structural Variant Analysis in Codicem, A Comprehensive Clinical Variant Analysis Platform

Come meet @pacbio.bsky.social Jocelyne Bruand this morning during the @theacmg.bsky.social poster session as she presents “Targeted long-read sequencing of native DNA for genetic disease diagnostic and screening research.” Poster #340. #PacBio #ACMG #ACMGMtg25

Come meet @pacbio.bsky.social Matt Holt this morning during the @theacmg.bsky.social poster session as he presents “StarPhase: Leveraging long-read sequencing to update pharmacogenomic benchmarks.” Poster #646. #PacBio #ACMG #ACMGMtg25

Elizabeth Berry-kravis #ACMGMtg25 describing ongoing ASO trials for treating Angelman. Lots of really promising results, with at least 3 active trials in human. Showed video examples of children who couldn't jump on trampoline / walk to those same kids jumping normal / walking a mile, incredible!

Allyson Berent #ACMGMtg25 describes her journey as a parent and now advocate of a child with Angelman syndrome. Describes the emotional patient journey and initial clinician journey on model organisms; followed by an active community and industry journey to push the envelope for *human* treatments.

Arthur Beaudet #ACMGMtg25 with an interesting summary of Angelman Syndrome (AS). He described history of discovery, as well as the understood mechanisms of disease so far (5 were listed, included SVs and methylation defects). Very good introduction talk!

I’ll be at #ACMGMtg25 poster 646 today starting at 10:30 to talk about our long-read pharmacogenomics (PGx) tool, StarPhase! Stop by if you’re interested in PGx or anything else long-read sequencing related! #PacBio #HiFi

Would love to see you all at the talk! Try the data out at one of the above annotators today! Watch out for the preprint in a couple weeks!
#ACMGMtg25 #AllofUs #GREGoR #medicalgenetics #raredisease #collaboration #annotation #exomes #genomes #sequencing #genetics #ineedtograduate #science
🧵 (4/4)

News from #ACMGMtg25! PacBio PureTarget and #HiFisequencing technology are being used as part of a new streamlined ataxia confirmatory offering at Athena, a business of Quest Diagnostics. Visit #PacBio booth #816 and check out our PureTarget poster #340 to learn more. The Quest/Athena booth is #316.

Xiao Chen #ACMGMtg25 describing Kivvi tool for assembling long repeat units in medically relevant genes (KIV2 and D4Z4) using #PacBio HiFi reads. Large repeats accurately assembled!

At noon today, @pacbio.bsky.social Xiao Chen will be presenting "Resolution of large complex VNTRs with HiFi sequencing: applications in LPA Kringle IV-type 2 repeat and D4Z4 repeat" at @theacmg.bsky.social in Petree Hall D. #PacBio #ACMG #ACMGMtg25

Join us at #ACMGMtg25! David Corney will be at PacBio Booth #816 today from 3–4 PM PDT to chat about how GENEWIZ by Azenta is using high-accuracy long-read sequencing in clinical genomics. Stop by and say hello, or attend our Exhibit Theater talk on March 21 at 11:55 AM! #PacBio

The American Society of Human Genetics (AHG) exhibiting at the American College of Medical Genetics (ACMG) 2025 Annual Meeting in Los Angeles, CA.

🎉We're here at #ACMGmtg25! The excitement is in the air, and we can't wait to connect with all of you. Swing by our booth, #634, for some fantastic conversations and a chance to see what we're offering. See you at the booth! ✨ #ASHG @theacmg.bsky.social

Come meet @pacbio.bsky.social Turner Duncan this morning during the #ACMGMtg25 poster session as he presents “Extracting HMW DNA from saliva for HiFi sequencing applications.” Poster #727. #PacBio #ACMG

Lauren Maucere #ACMGMtg25 (TED-style) on navigating care in the deaf community, a thriving community with a different language (sign) and unique benefits to society. Raises questions on "fixing" deafness, implications of curing deafness, implicit bias, and honest communication of therapies.

Grace Meier #ACMGMtg25 (TED-style) on providing care to the Amish community. Describes cultural challenges of working with the community. Large spread of technological advancement, and cannot guarantee electricity or phone access. Interest insight into the community!

Holly Tabor #ACMGMtg25 (TED-style) describing the ethical challenges in genetic care and disabilities. Notes that most of us know someone with a disability, and we will likely have a disability at some point in our lives. Provides ways to listen and be an ally for people with disabilities.

📢🧬 Happy #MedicalGeneticsAwareness week 🧬📢

This week, lets share knowledge, and raise #awareness about the importance of medical genetics in healthcare.
#ACMGmtg25 #LA #LosAngeles #IamaMedicalGeneticist #clinicalgenetics #hereditarydiseases #hereditarycancer #rarediseases

All of the Helix presentations at
@theacmg.bsky.social #ACMGMtg25 today
👇

Come see me at poster 101 to discuss PMS2, lower penetrance and NCCN guidelines.

And at poster 217 on how we are helping variant interpretation with a resource for the PS4 criteria.

#ACMGMtg25 has officially started! Visit Booth 723 for a demo and see today's full list of activities on our event page: www.genomenon.com/genomenon-at...

When 6-mo-old Rohan exhibited abnormal movements at daycare, he was diagnosed with infantile spasms, a rare type of seizure. Genome sequencing was key to pinpointing the cause of these & other symptoms for Rohan.

Watch this video to learn about genome sequencing. youtu.be/dRXfZnzOGfM

#ACMGMtg25

These people are super SMRT sequencing professionals who can bring you up to speed on highly accurate HiFi sequencing from @pacbio.bsky.social and how your research can benefit. Booth 816. #ACMG #ACMGMtg25