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@kmabbott.bsky.social

Molecular geneticist/Application specialist working in genome diagnostics/rare disease University Medical Center Groningen SNV/CNV pipelines, non-coding pipelines, short/long-read, software/tool testing…

62 Followers  |  136 Following  |  1 Posts  |  Joined: 13.11.2023  |  1.6635

Latest posts by kmabbott.bsky.social on Bluesky

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Review @naturerevgenet.bsky.social @mspielmann.bsky.social
Structural variants in the 3D genome as drivers of disease
www.nature.com/articles/s41...

30.06.2025 14:54 — 👍 4    🔁 2    💬 0    📌 0

Pangenome-aware DeepVariant https://www.biorxiv.org/content/10.1101/2025.06.05.657102v1

06.06.2025 22:48 — 👍 6    🔁 6    💬 1    📌 0
We'll be there!
Cambridge Biomedical Campus
Jobs and Careers Fair 2025
Sat 21st June
11am- 2.30pm
Cambridge Academy for Science and Technology

We'll be there! Cambridge Biomedical Campus Jobs and Careers Fair 2025 Sat 21st June 11am- 2.30pm Cambridge Academy for Science and Technology

Interested in a career on the @cambridgebiocampus.bsky.social?
Join us on 21st June at the CBC Jobs and Careers Fair to learn about the opportunities available at the LMB!
cambridge-biomedical.com/event/cbc-jo...

04.06.2025 11:17 — 👍 1    🔁 3    💬 0    📌 0
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FIMM-EMBL Group Leaders in Molecular Medicine FIMM-EMBL Group Leaders in Molecular Medicine

We have 2-3 group leader positions opening @fimm-uh.bsky.social !!

We are looking for outstanding candidates in human genetics and precision medicine.

This time we have a focus on population health data science. E.g. AI for EHR/health data       

Generous starting package 💰

shorturl.at/FAk6n

01.06.2025 15:38 — 👍 38    🔁 45    💬 0    📌 1
Picture saying We (GHGA) are hiring: a data steward/ bioinformatician in Tübingen

Picture saying We (GHGA) are hiring: a data steward/ bioinformatician in Tübingen

🚨 We're hiring! Join GHGA at the University of Tübingen as a Data Steward / Bioinformatician! 🧬🔍
✔️Manage & curate genomic data
✔️Work with top research networks (GHGA, GDI, GA4GH)
✔️Impactful role in bioinformatics
📅 Apply by March 16, 2025 here: t1p.de/gwhfx
#Bioinformatics #Genomics #ResearchJobs

07.02.2025 14:02 — 👍 3    🔁 6    💬 0    📌 0

If you're an early career researcher based in the U.S. and working on 🦠Microbiome Data🧬💻:

The @microbiomedata.org Ambassador Program is a great opportunity to learn, network, and contribute

07.02.2025 19:35 — 👍 6    🔁 7    💬 0    📌 0
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🎤 It is a pleasure to welcome Itay Tirosh from the Weizmann Institute at [BC]². Itay will present in the session 'Bioinformatics for cancer research'.

🔹Session chaired by @valboeva.bsky.social and @carmonation.bsky.social

👉Interested? Submit your abstract before 27 Feb: tinyurl.com/49w6wthj

04.02.2025 08:38 — 👍 6    🔁 4    💬 1    📌 0

Still a bit more than a week left to apply! PhD opportunity in the Beusch lab. Please share to anyone interested in RNA biology 🧪 #RNAsky #RNAbiology

07.02.2025 17:00 — 👍 10    🔁 15    💬 0    📌 1
visual for the job ad with pipettes in the background

visual for the job ad with pipettes in the background

The research group of Agnes Toth-Petroczy @tothpetroczylab.bsky.social is looking for an experimental Postdoc (m/f/d) in protein evolution of biomolecular condensates. Apply now! careers.mpi-cbg.de/jobs/5312959...

05.02.2025 13:53 — 👍 10    🔁 6    💬 0    📌 0
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‘Dark proteins’ hiding in our cells could hold clues to cancer and other diseases The human genome encodes potentially thousands of tiny proteins that were previously overlooked. The search is on to find out what they do.

“The leaders of the Human Genome Project always knew they were just starting a conversation”

The human genome encodes potentially thousands of tiny proteins that were previously overlooked. The search is on to find out what they do

https://go.nature.com/3CupmSS

29.01.2025 11:09 — 👍 96    🔁 25    💬 0    📌 5
EMBL International PhD Programme Summer Recruitment Applications open. Applications close 10 March 2025.

EMBL International PhD Programme Summer Recruitment Applications open. Applications close 10 March 2025.

Recruitment for the EMBL International PhD Programme is officially open! 🔊

At EMBL, we train young scientists to become skilled and creative future leaders in academia, industry & other sectors. Start your career in the life sciences with us!

www.embl.org/about/info/e...

🧪 #AcademicSky #careers

27.01.2025 08:38 — 👍 29    🔁 16    💬 0    📌 0
We believe that AI models developed for diagnostic purposes should consider subpopulations and, in particular, should not be blinded to sensitive attributes.

“Ethical Use of Artificial Intelligence in Medical Diagnostics Demands a Focus on Accuracy, Not Fairness” by Mert R. Sabuncu, Ph.D., Alan Q. Wang, Ph.D., and Minh Nguyen, M.S.

We believe that AI models developed for diagnostic purposes should consider subpopulations and, in particular, should not be blinded to sensitive attributes. “Ethical Use of Artificial Intelligence in Medical Diagnostics Demands a Focus on Accuracy, Not Fairness” by Mert R. Sabuncu, Ph.D., Alan Q. Wang, Ph.D., and Minh Nguyen, M.S.

The authors of a new Perspective argue that #AI tools for medical diagnostics should track and maximize accuracy for all subpopulations, rather than focusing on fairness criteria that quantify disparities between protected subpopulations. nejm.ai/3C1E6bM

#MedSky

24.01.2025 18:12 — 👍 14    🔁 4    💬 0    📌 3

One more week until the abstract submission deadline for #eshg2025 #hybridconference! Do not forget to submit your abstract until Thursday, January 30, 2025, 23.59 h CET. All information can be found on our website:
2025.eshg.org/abstracts/
#genetics #genomes

23.01.2025 16:51 — 👍 6    🔁 5    💬 0    📌 1
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GREGoR: Accelerating Genomics for Rare Diseases Rare diseases are collectively common, affecting approximately one in twenty individuals worldwide. In recent years, rapid progress has been made in rare disease diagnostics due to advances in DNA seq...

🚨 Excited to announce the Marker paper for the GREGoR Consortium! arxiv.org/abs/2412.14338

Accelerating #RareDisease diagnostics with cutting-edge #Genomics and global data sharing of omics and deep phenotyping from ~7500 individuals on NHGRI AnVIL and much more to come! 🧬

20.12.2024 01:49 — 👍 16    🔁 12    💬 1    📌 1

Great @eshg.bsky.social effort for few science & education. New monthly webinar series - with stellar speakers each month!
#HumanGenetics #Genomics #eshg2025

20.12.2024 10:51 — 👍 1    🔁 2    💬 1    📌 0

Thanks for starting this starter pack! Would love to join!

16.11.2024 17:54 — 👍 0    🔁 0    💬 0    📌 0

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