Tamina Lebek
@lebektamina.bsky.social
📤 96
📥 99
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reposted by
Tamina Lebek
Mihaly Badonyi
5 months ago
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
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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...
https://www.biorxiv.org/content/10.1101/2025.05.16.654507v2
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reposted by
Tamina Lebek
Sally Lowell
9 months ago
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
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So excited to have been at
#biologists100
!
@biologists.bsky.social
very family-friendly as always!
add a skeleton here at some point
9 months ago
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reposted by
Tamina Lebek
Mihaly Badonyi
10 months ago
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...
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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 (...
https://www.biorxiv.org/content/10.1101/2025.03.13.642984v1
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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!
add a skeleton here at some point
11 months ago
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4
0
reposted by
Tamina Lebek
Sally Lowell
12 months ago
How to make labs more sustainable: energy use in labs
www.biologists.com/stories/sust...
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How to make labs more sustainable: energy use in labs
13 January 2025 by Jeroen Dobbelaere Within research labs there are several recognisable appliances which use a considerable amount of energy. These appliances include freezers for storing samples, in...
https://www.biologists.com/stories/sustainable-labs-energy-use-in-labs/
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reposted by
Tamina Lebek
Mihaly Badonyi
12 months ago
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!
add a skeleton here at some point
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reposted by
Tamina Lebek
The Company of Biologists
12 months ago
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
.
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reposted by
Tamina Lebek
The Company of Biologists
about 1 year ago
🧪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
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reposted by
Tamina Lebek
The Company of Biologists
about 1 year ago
We are happy to report that our journals and community sites now have Bluesky accounts. Follow them at:
@dev-journal.bsky.social
@jcellsci.bsky.social
@jexpbiol.bsky.social
@dmmjournal.bsky.social
@biologyopen.bsky.social
@the-node.bsky.social
@prelights.bsky.social
@focalplane.bsky.social
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We had a great time at today's Development presents seminar!
add a skeleton here at some point
about 1 year ago
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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
add a skeleton here at some point
about 1 year ago
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