Mallory Freeberg
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malloryfreeberg.bsky.social
Mallory Freeberg
@malloryfreeberg.bsky.social
🧬 Human Data Sharing Expert
🌱 Community & Collaboration Builder
👩‍💻 Bioinformatics & Metadata Enthusiast
🙌 Open Science Advocate
🇺🇸 in 🇬🇧
Reposted by Mallory Freeberg
#ELIXIR is looking for a Head of Operations to lead the Operations team at the ELIXIR Hub and 🤝 coordinate the implementation of our scientific programme. Apply by 15 November 👉 https://loom.ly/0lpqg88

#ResearchInfrastructures #hiring
October 23, 2025 at 3:04 PM
📣 Check out this cool new work to better represent and integrate growth data, including in the @deciphergenomics.bsky.social platform, to help children with rare genetic conditions 🧬💻
Growth charts guide child healthcare, but standard charts often don’t reflect the growth patterns of children with rare conditions.

A new method, LMSz, creates condition-specific growth charts and is being integrated in @deciphergenomics.bsky.social

www.ebi.ac.uk/about/news/t...
🧬💻
New method to bring growth charts to children with rare genetic conditions through DECIPHER
A new method for building growth charts for children with rare diseases is being integrated into DECIPHER to help clinicians and families understand child development.
www.ebi.ac.uk
October 23, 2025 at 6:11 PM
Reposted by Mallory Freeberg
🇪🇬 Egypt is a new strategic partner for the EU.

During the first EU-Egypt summit, the EU committed to:

💰€4 billion in Macro-Financial Assistance
💶€75 million to support of socio-economic reforms

Egypt joins #HorizonEU, unlocking opportunities for local researchers.

🔗 link.europa.eu/RphYTp
October 23, 2025 at 9:11 AM
Reposted by Mallory Freeberg
🏅 There’s less than a month left to apply for the ECR Award in PPIE — a great opportunity to recognise and celebrate early career researchers who are making real impact through patient and public involvement and engagement.

📣 Don’t miss out. Spread the word and share this with your networks!
🏆The Early Career Researcher Award in PPIE is back for year two!

🤝Do you know a young researcher who is or has meaningfully and effectively involved your community in their research?

Share this opportunity with your networks!

Find out more & apply tinyurl.com/ECRaward25
October 17, 2025 at 12:25 PM
Reposted by Mallory Freeberg
🚨 Countdown to #ASHG25: Predicted Effector Gene standard is coming! 🚨 Join us and be part of the conversation!
📌 Poster Oct 16 | 2:30–4:30 | Poster Hall
🗓️ Session Oct 17 | 11:45–1:15 | Room 259A
Learn more: kpnashg2025.wordpress.com/pegs-workshop/
PEGs Workshop
Friday, October 17th | 11:45AM – 1:15PM | Convention Center room 259A The meeting will open with an introduction (Noel Burtt), include a recap of the landscape analysis (Laura Harris), presentation…
kpnashg2025.wordpress.com
October 14, 2025 at 8:24 AM
Reposted by Mallory Freeberg
🧬💬 Tomorrow, Abeer Fadda, bioinformatics lead at the EGA - @crg.eu team and researcher in the @hereditaryeu.bsky.social project, will be participating in a roundtable on genomic medicine at #RIES2025

Check out the agenda ➡️ forumries.com/programa/
October 15, 2025 at 12:15 PM
Stay updated with the latest EGA news by signing up for the newly launched EGA Newsletter! 🤩

Providing easy access the latest highlights and insights from EGA including about #FederatedEGA, @ga4gh.org engagements, international projects, and more 🙌

✏️ Sign up here: mailchi.mp/4c1f9c3a3030...
📢 We are excited to announce the incoming launch of the EGA Newsletter!

Sign up now to stay updated on the latest news related to Federated EGA, Beacon, along with highlights and updates on the ongoing projects we are involved in 🙌

👉 mailchi.mp/4c1f9c3a3030...
October 9, 2025 at 7:43 AM
Reposted by Mallory Freeberg
Heads up: ignore samtools dot org, similarly minimap2 dot com and likely others. It's owned by a known phishing site and while the binaries they offer look valid currently (but note they may be serving us different binaries to others), that could change.

Ie: it's not us (Samtools team)! Be warned
September 15, 2025 at 8:40 AM
Reposted by Mallory Freeberg
Heads up! The Ensembl Rapid Release site (zurl.co/2iF0U) will be archived very soon.
All links to it will redirect to our new site: zurl.co/PMirU
The original data will remain accessible at zurl.co/9IQJv.
Questions? Reach us at helpdesk [at] ensembl.org
September 12, 2025 at 12:02 PM
Reposted by Mallory Freeberg
New release of pmultiqc v0.0.34 🚀🎉. github.com/bigbio/pmult..., highlights:
- A new contributor, Chris Bielow
- MaxDIA support, thanks @maxquant.bsky.social pmultiqc.quantms.org/MaxDIA/multi...
- DIANN reports way deeper thanks @vadim-demichev.bsky.social pmultiqc.quantms.org/DIANN/multiq...
Release v0.0.34 - DIANN and MaxDIA support · bigbio/pmultiqc
What's Changed fix bugs and add plots for mzid by @yueqixuan in #295 Multiple fix in mzidentml by @ypriverol in #296 MaxQuant: Fix NaN intensity errors by @cbielow in #304 Fix bug in proteobench_u...
github.com
September 12, 2025 at 12:47 PM
Reposted by Mallory Freeberg
Deadline approaching: register for GA4GH 13th Plenary in-person participation by 22 September.

Onsite registration will not be available. Virtual participation is free and open to all.

Learn more and register for the meeting: buff.ly/Iy5ocjo
Home
broadinstitute.swoogo.com
September 12, 2025 at 1:01 PM
💡Latest DECIPHER features!

⚛️ ProtVar (www.ebi.ac.uk/ProtVar/) links to functional annotations of missense variants
⚕️ ClinGen (clinicalgenome.org) VCEP Recommendations highlighted
📝 Descriptive names for gene & protein predictive scores

👉 More info www.deciphergenomics.org

#variantinterpretation
September 11, 2025 at 12:37 PM
Reposted by Mallory Freeberg
Very cool new feature in @deciphergenomics.bsky.social - direct link from any missense variant to ProtVar @ebi.embl.org. This variant is in the binding site and likely interacts with the ligand, predicted using AlphaFold with AlphaFill!
September 10, 2025 at 9:54 AM
Reposted by Mallory Freeberg
📣 GA4GH 13th Plenary panel spotlight: “Real-world implementation of GA4GH standards”

Learn about real-world examples highlighting how GA4GH tools and frameworks are powering interoperability and translating data sharing into action.

Register for GA4GH 13th Plenary: buff.ly/k1udEHJ
September 10, 2025 at 12:45 PM
Reposted by Mallory Freeberg
Headed to #ASHG25?

Don’t miss HPRC’s workshop on the Human Pangenome: Data, Tools & Workflows.

📅 Oct 14 | 10AM–12PM

Learn how to access data & use pangenome tools!

www.ashg.org/product/ashg...
ASHG 2025 Workshop: The Human Pangenome: Data, Tools, and Workflows
Introducing participants to the new Human Pangenome Reference, how samples were chosen to maximize variation, & technologies used to build the pangenome
www.ashg.org
August 20, 2025 at 4:20 PM
Reposted by Mallory Freeberg
Welcome @timcoorens.bsky.social ‪ ‬🇳🇱, our new Research Group Leader.

Find out how Tim’s group is exploring using large-scale single-cell and spatial data to trace cell lineages, understand cancer origins, and uncover how mutations drive disease.

www.ebi.ac.uk/about/news/p...
🖥️🧬
Welcome: Tim Coorens
EMBL-EBI’s newest Research Group Leader is investigating how somatic mutations reveal the hidden histories of human cells.
www.ebi.ac.uk
August 12, 2025 at 9:04 AM
Reposted by Mallory Freeberg
The iPSYCH study represents a unique example to understand the ethical and legal challenges of using existing samples/data for health research. A thread 🧵

www.science.org/content/arti...
Blood taken from Danish babies ended up in huge genetic study—without consent
The iPsych project, which investigates the genetics of psychiatric disorders, has sent 140,000 opt-out notices amid backlash
www.science.org
August 5, 2025 at 5:16 PM
Reposted by Mallory Freeberg
Check out this opportunity to join my lab as a postdoc! www.ebi.ac.uk/research/pos...

Every year, faculty from EMBL-EBI and the Wellcome Sanger Institute co-develop projects that allow fellows to be part of ✨both✨ of these amazing research institutes.
EMBL-EBI-Sanger postdoctoral fellowships (ESPOD)
The ESPOD fellowship builds on the collaborative relationship between EMBL-EBI and the Wellcome Sanger Institute, offering projects that combine experimental (wet-lab) and computational (dry-lab) appr...
www.ebi.ac.uk
August 7, 2025 at 9:14 AM
Reposted by Mallory Freeberg
Really cool read if you're into federated analysis in genomics 🧬 It clears up a lot of the jargon and makes it easier to get the bigger picture! rdcu.be/eyKGr
Communicating clearly about data sharing in genomics | Human Genomics
rdcu.be
July 31, 2025 at 8:12 PM
Reposted by Mallory Freeberg
📣 We are recruiting! Please share!!

Are you a bioinformatician / computational scientist who wants to apply your skills to understanding regulatory biology and improving rare disease diagnosis and treatment? 🧠 💻 🧬 🩺

We have two roles available 👇

🧵 1/4
July 31, 2025 at 4:12 PM
Reposted by Mallory Freeberg
To all post-docs: The Genome Biology dept ‪@embl.org
has an Independent faculty position. Fantastic place to set up your lab –great package: core funding, fantastic Ph.D. students, cutting edge core facilities & great colleagues. Closing date Sept 19th
embl.wd103.myworkdayjobs.com/en-US/EMBL/j...
Group Leader - Genome Biology Unit
Are you ready to lead groundbreaking research in Genome Biology? Join us at EMBL! We are seeking a motivated scientist to lead an independent research group addressing exciting and original biological...
embl.wd103.myworkdayjobs.com
July 30, 2025 at 1:41 PM
Reposted by Mallory Freeberg
A draft UAE-based Arab pangenome reference www.nature.com/articles/s41... 🧬🖥️🧪
July 28, 2025 at 6:31 PM
Reposted by Mallory Freeberg
July 23, 2025 at 1:04 PM
🧬💻 We're hiring a #Software #Developer @emblebi.bsky.social! Join the @deciphergenomics.bsky.social team building tools for global rare disease diagnosis & research. Work that matters, in a collaborative environment.
👉 Apply: embl.wd103.myworkdayjobs.com/en-US/EMBL/j...
⏰ Deadline: 10 August
Software Developer
In this role, you will have the opportunity to develop domain area expertise in human genetics while working with a modern technology stack. You will design, develop and support the DECIPHER platform,...
embl.wd103.myworkdayjobs.com
July 26, 2025 at 9:34 AM
🧬💻 We're hiring a #Bioinformatics #Developer @emblebi.bsky.social! Join the @ensembl.bsky.social Variation team building open-source tools to support global research & clinical genomics. Collaborative team; real impact.
👉 Apply: embl.wd103.myworkdayjobs.com/en-US/EMBL/j...
⏰ Deadline: 10 August
Bioinformatics Developer
About the team and role The Ensembl Project based at the European Bioinformatics Institute (EMBL-EBI) develops free, comprehensive genome data services for a worldwide audience, distributing gene and ...
embl.wd103.myworkdayjobs.com
July 26, 2025 at 9:22 AM