Tamina Lebek
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lebektamina.bsky.social
Tamina Lebek
@lebektamina.bsky.social
Reposted by Tamina Lebek
We’ve updated the acmgscaler manuscript following reviewer and community feedback.

The R package now has a single calibrate() function, and the Colab interface is easier to use.

📄 Manuscript: www.biorxiv.org/content/10.1...
🧪 Colab: edin.ac/4mjzijp

#rstats @theacmg.bsky.social
acmgscaler: An R package and Colab for standardised gene-level variant effect score calibration within the ACMG/AMP framework
A genome-wide variant effect calibration method was recently developed under the guidelines of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/A...
www.biorxiv.org
August 15, 2025 at 8:35 AM
Reposted by Tamina Lebek
A small good thing in these difficult times.

The always-impressive Aisling Fairweather treated us to some particularly delicious data in lab meeting today #BakeYourData #NeighbourLabelling
April 7, 2025 at 1:44 PM
So excited to have been at #biologists100! @biologists.bsky.social very family-friendly as always!
Tamina Lebek @lebektamina.bsky.social is a panellist in the last session of #biologists100.

We took a photo of her and her little collaborator! Her key words are #BabiesInScience #PUFFFIN #NeighbourLabelling. Check out this interview with Tamina: thenode.biologists.com/the-sdb-bsdb...
March 27, 2025 at 5:58 PM
Reposted by Tamina Lebek
1/ Excited to share our latest work on the "Prevalence of loss-of-function, gain-of-function and dominant-negative mechanisms across genetic disease phenotypes". @marshlab.bsky.social @uoe-igc.bsky.social www.biorxiv.org/content/10.1...
Prevalence of loss-of-function, gain-of-function and dominant-negative mechanisms across genetic disease phenotypes
Molecular disease mechanisms caused by mutations in protein-coding regions are diverse, but they can be broadly categorised into loss-of-function (LOF), gain-of-function (GOF), and dominant-negative (...
www.biorxiv.org
March 17, 2025 at 12:44 PM
Honored to be featured in #100biologists alongside so many inspiring scientists! @biologists.bsky.social and @bsdb.bsky.social supported my PhD journey through conferences, seminars, and travel grants. Proud to have two publications in CoB journals and to give back as a BSDB committee member!
We are featuring Tamina Lebek, @bsdb.bsky.social ECR representative and a PhD student at @edinburgh-uni.bsky.social, as an extraordinary biologist this week. Tamina has also been interviewed by @the-node.bsky.social and given a Development presents…talk.
#100biologists
@lebektamina.bsky.social
February 11, 2025 at 9:57 PM
Reposted by Tamina Lebek
Happy to see our predictive scores integrated into DECIPHER! We hope they will help clinicians uncover the molecular mechanisms driving dominant disease. Huge thanks to the team at @deciphergenomics.bsky.social for their support. A follow-up study is underway to improve predictions—stay tuned!
Protein predictive scores which predict the likelihood that the protein is associated with a dominant-negative, gain-of-function or loss-of-function mechanism are displayed. Curated literature support for a molecular disease mechanism is also shown jmarshlab.bsky.social @mbadonyi.bsky.social
January 8, 2025 at 4:36 PM
Reposted by Tamina Lebek
The next extraordinary biologist is Anahí Binagui-Casas, an early-career researcher involved in the Biologists @ 100 conference and her research focusses on vertebrate development. #100biologists @abinagui.bsky.social.

Register for the conference at 100yearsconference.biologists.com.
January 8, 2025 at 12:03 PM
Reposted by Tamina Lebek
🧪The #biologists100 programme includes different scientific tracks. Learn more about each in this thread 🧵.

The conference incorporates the BSCB and BSDB @bsdb.bsky.social Spring Meetings.

View the #CellBio & #DevBio programme and speakers at bit.ly/3B2uflr

📆Abstracts due: 13 December
December 9, 2024 at 12:32 PM
Reposted by Tamina Lebek
November 25, 2024 at 2:44 PM
We had a great time at today's Development presents seminar!
I'm so incredibly proud of our PhD student @lebektamina.bsky.social for delivering an excellent DevPres seminar this afternoon in close collaboration with her young baby 😍👶🧪

Read Tamina's work on illuminating cell neighbourhoods and locally-synchronising differentiation:PMID: 38997504
#DevBio
November 20, 2024 at 4:10 PM
Looking forward to talking about our PUFFFIN project at Development presents! Have a look at our paper now www.embopress.org/doi/full/10.... and tune in tomorrow! #DevBio #PUFFFIN
November 19, 2024 at 3:38 PM