@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…
SNV/CNV pipelines, non-coding pipelines, short/long-read, software/tool testing…
Reposted
Review @naturerevgenet.bsky.social @mspielmann.bsky.social
Structural variants in the 3D genome as drivers of disease
www.nature.com/articles/s41...
Structural variants in the 3D genome as drivers of disease
www.nature.com/articles/s41...
June 30, 2025 at 2:54 PM
Review @naturerevgenet.bsky.social @mspielmann.bsky.social
Structural variants in the 3D genome as drivers of disease
www.nature.com/articles/s41...
Structural variants in the 3D genome as drivers of disease
www.nature.com/articles/s41...
Reposted
Pangenome-aware DeepVariant https://www.biorxiv.org/content/10.1101/2025.06.05.657102v1
June 6, 2025 at 10:48 PM
Pangenome-aware DeepVariant https://www.biorxiv.org/content/10.1101/2025.06.05.657102v1
Reposted
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...
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...
June 4, 2025 at 11:17 AM
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...
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...
Reposted
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
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
FIMM-EMBL Group Leaders in Molecular Medicine
FIMM-EMBL Group Leaders in Molecular Medicine
jobs.helsinki.fi
June 1, 2025 at 3:38 PM
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
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
Reposted
🚨 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
✔️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
February 7, 2025 at 2:02 PM
🚨 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
✔️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
Reposted
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
The @microbiomedata.org Ambassador Program is a great opportunity to learn, network, and contribute
📣 Our 2025 Ambassador cohort applications are officially OPEN! Are you an early career researcher passionate about open science and FAIR microbiome data? Head to microbiomedata.org/ambassadors to learn more & apply!
February 7, 2025 at 7:36 PM
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
The @microbiomedata.org Ambassador Program is a great opportunity to learn, network, and contribute
Reposted
🎤 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
🔹Session chaired by @valboeva.bsky.social and @carmonation.bsky.social
👉Interested? Submit your abstract before 27 Feb: tinyurl.com/49w6wthj
February 4, 2025 at 8:38 AM
🎤 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
🔹Session chaired by @valboeva.bsky.social and @carmonation.bsky.social
👉Interested? Submit your abstract before 27 Feb: tinyurl.com/49w6wthj
Reposted
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
Now official: We have another opening for a fully funded #PhDposition in the Beusch lab (www.beuschlab.org) at @uniwuerzburg.bsky.social! More details here: tinyurl.com/947xcw85 If you or someone you know is curious about #splicing please apply or contact me for more information! #RNAsky #RNAbiology
PhD-Beusch_202501_final.pdf
tinyurl.com
February 7, 2025 at 5:00 PM
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
Reposted
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...
February 5, 2025 at 1:53 PM
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...
Reposted
“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
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
‘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.
go.nature.com
January 29, 2025 at 11:09 AM
“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
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
Reposted
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
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
January 27, 2025 at 8:38 AM
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
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
Reposted
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
#MedSky
January 24, 2025 at 6:12 PM
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
#MedSky
Reposted
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
2025.eshg.org/abstracts/
#genetics #genomes
January 23, 2025 at 4:51 PM
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
2025.eshg.org/abstracts/
#genetics #genomes
Reposted
🚨 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! 🧬
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! 🧬
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...
arxiv.org
December 20, 2024 at 1:49 AM
🚨 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! 🧬
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! 🧬
Reposted
Great @eshg.bsky.social effort for few science & education. New monthly webinar series - with stellar speakers each month!
#HumanGenetics #Genomics #eshg2025
#HumanGenetics #Genomics #eshg2025
Announcing new free ESHG webinar series!
🗓️ Last Wednesday of each month
📅 First episode: Feb 26, 2025 (16:00 CET)
🎤 Speaker: Malte Spielmann
💡 Topic: "The Dark Side of the #Genome: Challenges & Opportunities in the Post-Genomic Era"
🔗 Register now: wma.eventsair.com/eshg-webinar...
🗓️ Last Wednesday of each month
📅 First episode: Feb 26, 2025 (16:00 CET)
🎤 Speaker: Malte Spielmann
💡 Topic: "The Dark Side of the #Genome: Challenges & Opportunities in the Post-Genomic Era"
🔗 Register now: wma.eventsair.com/eshg-webinar...
December 20, 2024 at 10:51 AM
Great @eshg.bsky.social effort for few science & education. New monthly webinar series - with stellar speakers each month!
#HumanGenetics #Genomics #eshg2025
#HumanGenetics #Genomics #eshg2025