Excited to announce that applications are open for the Mass General Brigham T32 Postdoctoral Training Program in Precision & Genomic Medicine!

Looking forward to another great AGBT-Precision Health meeting in San Diego Sept 8-10. Abstracts due June 30th. Hope to see you there! We'll have an increased focus on rare disease and AI in genomics this year. #AGBTPH25 www.agbtprecisionhealth.org

13th Plenary will be held from 6 to 10 October 2025 in Uppsala, Sweden. The first two days will feature talks and discussions on genomic and health data sharing from global perspectives. View our full speaker line up: broadinstitute.swoogo.com/ga4gh13plena...

Agenda

Agenda

broadinstitute.swoogo.com

Our "Atlas of Variant Effects 2030 Roadmap" is live: zenodo.org/records/1542... 1/n

Our recent paper is out: Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence level buff.ly/Z0DcO9Q If you don't have access, our preprint is here buff.ly/z8UvVtY This paper emphasizes the critical benefit of VUS subclassification for physicians and patients.

We are excited to announce a call for papers for a special issue of Genome Medicine genomemedicine.biomedcentral.com on "Clinical interpretation of genome variation". The submission deadline is Dec 18, 2025. More info here: go.sn.pub/gskvsk.

New preprint! We worked with @msftresearch.bsky.social and @broadinstitute.org to see whether large language models (LLMs) can be useful to variant scientists in deciding whether genetic variants seen in a patient are responsible for their disease. tl;dr yes they can: www.biorxiv.org/content/10.1...

Evidence Aggregator: AI reasoning applied to rare disease diagnostics

Retrieving, reviewing, and synthesizing technical information can be time-consuming and challenging, particularly when requiring specialized expertise, as is the case of variant assessment for rare di...

biorxiv.org

Join us for this must-attend conference! 🌟 Explore discussions on #variantinterpretation guidelines, tools, variant effects, and more. Don’t miss insights from our stellar lineup of speakers, details here: bit.ly/4gt4EB6 @deciphergenomics.bsky.social @heidirehm.bsky.social @ee-reh-neh.bsky.social

The second data release from the GREGoR Consortium is now available on AnVIL for controlled access by the broader scientific community! 🧬 Learn more here: anvilproject.org/news/2024/11... #DataSharing #Genomics #Collaboration

I am excited to present STRchive.org v2! A resource for tandem repeats associated with Mendelian disease. We have resigned the website, added new loci, streamlined our data for easier reuse, added more detailed citations, presented population frequency data and more!

STRchive

An archive of STRs associated with human diseases

strchive.org

We are delighted to announce this year's call for applications for the NHGRI-funded MGB T32 Postdoctoral Training Program in Precision and Genomic Medicine https://buff.ly/414Xajk Please RT or share w/ those who may be interested.

We are delighted to announce this year's call for applications for the NHGRI-funded MGB T32 Postdoctoral Training Program in Precision and Genomic Medicine https://buff.ly/414Xajk Please share w/ those who may be interested.

I know many of you have been awaiting us launching transcript expression data in gnomAD. We were waiting for the GTEx v10 release which is now out so we are finally able to launch this. Enjoy!!

Genome Aggregation Database (gnomAD)@gnomad-project.bsky.social · 2y ago

Proportion expressed across transcripts (pext), using GTEx v10, is now available on #gnomAD v4!

Just started using Buffer to simultaneously post on @bsky.app, LinkedIn,‬ and X/Twitter as I make my gradual shift away from the toxic and biased world of X....

Forthcoming guidance will recommend labs report VUS subclasses. We share experience of 4 labs including rates of reclassification of VUS subclasses. By highlighting VUS-high and downplaying VUS-low, this will be game-changing for dx genetic testing.

Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence level

Purpose: Genetic testing commonly yields a plethora of variants of uncertain significance (VUS) that can lead to ongoing uncertainty for patients and their caregivers. While all VUS hold uncertainty,…

buff.ly

Our ACMG WG will give guidance on when labs should and should not report VUS, including the use of VUS subclasses coming in the next Sequence Variant Classification guidelines. Please share your opinion on VUS reporting through our <10 min survey forms.gle/niNoAwfQmbWn...

ACMG Working Group Survey on VUS Reporting

The ACMG/AMP/CAP/ClinGen SVC v4.0 standards for sequence variant classification will soon be released and provide an easy framework for subclassifying VUS by likelihood of pathogenicity. Another worki...

forms.gle