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Heidi Rehm @heidirehm.bsky.social · 28d

Another great AGBT Precision Health just wrapped up. Great science, great talks, great colleagues and can’t beat the lovely weather in San Diego! We’ll be back at same place next year!!

Heidi Rehm @heidirehm.bsky.social · Jul 6

I enjoyed this conversation! Lots of great questions 😊

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Heidi Rehm @heidirehm.bsky.social · Jun 19

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

HOME | AGBT Precision Health

www.agbtprecisionhealth.org

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Reposted by Heidi Rehm

Global Alliance for Genomics and Health @ga4gh.org · May 29

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

broadinstitute.swoogo.com

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Heidi Rehm @heidirehm.bsky.social · May 24

This has been a great collaboration. Very excited for this to be in preprint and even better that we now have a way to scale our genomic reanalysis efforts! Genomes, genomes, everywhere….

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Reposted by Heidi Rehm

Doug Fowler @dougfowler.bsky.social · May 15

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

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Atlas of Variant Effects 2030 Roadmap: resolving human variants of uncertain significance

At the Clinical Atlas of Variant Effects meeting (CLAVE meeting, July 2024, Pittsburgh USA), we developed recommendations for a draft atlas that can be realized by 2030, with a focus on empowering gen...

zenodo.org

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Heidi Rehm @heidirehm.bsky.social · May 6

It was great to see you Eimear! Thanks for spending the day with us ❤️

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Heidi Rehm @heidirehm.bsky.social · Apr 13

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.

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Heidi Rehm @heidirehm.bsky.social · Mar 28

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.

Call for papers - Clinical interpretation of genome variation: volume II

go.sn.pub

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Reposted by Heidi Rehm

Daniel MacArthur @dgmacarthur.bsky.social · Mar 15

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...

www.biorxiv.org

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Reposted by Heidi Rehm

Nagehan Ramazanoglu Bahadir @nagehanr.bsky.social · Jan 9

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

Wellcome Connecting Science Learning and Training @eventswcs.bsky.social · Jan 9

Registration is now open for our Curating the Clinical Genome Conference! #CCG2025

🗓️Dates: 11 - 13 June 2025

If you are interested in shaping best practices for the clinical use of #GenomicsData, then this is the conference for you! 🧬

🗣️ Keynote: @heidirehm.bsky.social

📎Info: bit.ly/4gt4EB6

Wellcome Connecting Science
Curating the Clinical Genome hybrid conference
11-13 June 2025
Location: Hinxton Hall Conference Centre, Wellcome Genome Campus, UK and online
Bursary deadline: 18 March 2025
Abstract deadline: 15 April 2025
In-person registration deadline: 13 May 2025
Virtual registration deadline: 3 June 2025

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Reposted by Heidi Rehm

GREGoR Consortium @gregor-research.bsky.social · Dec 12

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

Data Release - GREGoR Consortium - AnVIL Portal

anvilproject.org

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Reposted by Heidi Rehm

Harriet Dashnow @hdashnow.bsky.social · Dec 12

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

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Heidi Rehm @heidirehm.bsky.social · Nov 27

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.

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Heidi Rehm @heidirehm.bsky.social · Nov 27

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.

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Heidi Rehm @heidirehm.bsky.social · Nov 22

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 · Nov 22

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

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Heidi Rehm @heidirehm.bsky.social · Nov 15

@seplon.bsky.social Weird, I've had hundreds more people follow me since the election (clearly a trigger point!) so I must be findable...
@nickywhiffin.bsky.social your starter pack was very useful - thank you!

Heidi Rehm @heidirehm.bsky.social · Nov 14

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....

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Heidi Rehm @heidirehm.bsky.social · Nov 14

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

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Heidi Rehm @heidirehm.bsky.social · Jun 28

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

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Heidi Rehm @heidirehm.bsky.social · Nov 4

We’ll done Julia!!

Heidi Rehm @heidirehm.bsky.social · Nov 1

Words can’t express how excited I am for gnomAD v4 to launch today, just in time for #ashg23. Amazing effort from so many people!!!