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Posts by Joep de Ligt 🧬 PhD

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Day 2 at #AGBT2026

Join us 8:00–9:00 AM in the Palm Beach Suite:

• CoolMPS 600 — high accuracy + longer reads
• Stereo-seq spatial transcriptomics
• Disease microenvironments (Mayo Clinic)

🎤 ctDNA workshop at 2:40 PM
🏁 Final day of our F1 challenge

See you there.

#Genomics #SpatialBiology #

1 month ago 0 1 0 0
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What’s the power of a pangenome? Here at the Earlham Institute a lot of people are very excited about pangenomes. But what are they? And how will they change genetics?

📑 Researchers are moving away from a single point of reference to compare multiple genomes against each other, providing a much greater picture of genetic diversity.

🔗 buff.ly/4Kwgz6N

#pangenome #genomics 🖥️ 🧬

10 months ago 4 4 0 0
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MOBS 1.0: A Database of Interspecific Variation in Marine Organismal Body Sizes Motivation Body size is a fundamental trait influencing an organism's life history, ecology, physiology and evolutionary dynamics. While extensive body-size databases exist for terrestrial vertebrat...

For many marine species, all we have is a name. Now, thanks to a huge effort led by @drcraigmc.bsky.social, for 85,000 species we have body size as well. Version 1 of the MOBS database is published today: onlinelibrary.wiley.com/doi/10.1111/... Enjoy! 🌐🧪

10 months ago 51 21 1 3
Paulien Hogeweg - Wikipedia

And especially since the term bioinformatics was coined by/is attributed to a women. Paulien Hogeweg. en.m.wikipedia.org/wiki/Paulien...

10 months ago 2 1 1 0
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🌟 A little recap from yesterday's #ELIXIR25:

Participants have a morning of fruitful discussion in workshops covering topics from #AI and #KnowledgeGraphs, #ResearchDataManagement resources 💾 to #Galaxy and #biodiversity and #FederatedEGA 🧬 and more! (🧵2/3)

10 months ago 7 4 1 0

It's always so cool to say people this involved with data and specimen collection, but having worked in Aotearoa NZ for a while means I also so a risk of biopiracy and colonial practices in this. Are volunteers are aware of local and Indigenous perspectives? How is benefit sharing done?

10 months ago 1 0 0 0

🧬🖥️Drug response prediction is a machine learning challenge with immense potential for precision medicine. Our latest preprint introduces DrEval, a comprehensive benchmarking framework to evaluate state-of-the-art methods, uncover widespread issues, and guide the development of more robust models.

10 months ago 9 5 0 0

📢 Meet the partners of the #EASIGEN-DS Consortium!

📍‪ UKSH is known for its clinical and research excellence, @uni-kiel.de is a top public research university and together they established IKMB to explore human diseases using genomic technologies. They serve as German node of #EASIGEN-DS

10 months ago 2 1 1 0
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Damage and Misrepair Signatures: Compact Representations of Pan-cancer Mutational Processes Mutational signatures of single-base substitutions (SBSs) characterize somatic mutation processes which contribute to cancer development and progression. However, current mutational signatures do not ...

Please check out our new approach to modeling somatic mutation signatures.

DAMUTA has independent Damage and Misrepair signatures whose activities are more interpretable and more predictive of DNA repair defects, than COSMIC SBS signatures 🧬🖥️🧪

www.biorxiv.org/content/10.1...

10 months ago 41 17 0 0
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#ELIXIR25 next up we will be hearing from federated EGA.

10 months ago 1 0 0 0
Lost of links to demonstrator products and cBioPortal screenshot

Lost of links to demonstrator products and cBioPortal screenshot

#ELIXIR25 cancer use case example

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#ELIXIR25 now a presentation from GDI (Genomics Data Infrastructure). Discovery by anonymous users but needs authentication before they can dig deeper

10 months ago 2 0 1 0
Mao of Europe showing most countries are engaged and a long list of projects

Mao of Europe showing most countries are engaged and a long list of projects

Examples of projects #ELIXIR25

10 months ago 1 0 1 0

#ELIXIR25 wide range of projects and stakeholders. Some key ones for cancer: EOSC cancer, CANDLE, GA4GH and B1MG.

10 months ago 1 0 1 0
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🔑 For the keynote speech, Naveed Aziz from @genomecanada.ca shared Canada’s genomic strategy for collaboration through shared data, marking the importance of #globalcollaboration in #openscience.

#ELIXIR25

10 months ago 4 2 1 0
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How has the 100k Genomes Project changed care for rare disease?
Hear from Dr Rich Scott (Genomics England) at #UKPGx2025.
📍 London | 🗓️ 18 June
🎟️ Register now: my.bps.ac.uk/events/detai...
#RareDisease #Genomics #HealthcareInnovation

10 months ago 4 1 0 0

#ELIXIR25 🖥️🧬🧪 next session: Human Genomes across borders at scale. "Federated analysis to solve real world problems."

10 months ago 8 0 1 0
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#ELIXIR25 generational opportunity to build safe, fast and ethically governed (including indigenous voices) for data driven research and healthcare across borders.

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#ELIXIR25 starting with a personal story about the value of genomics for rare diseases when data is shared globally.

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#ELIXIR25 Naveed Aziz from @genomecanada.ca up now about collaboration through shared data.

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#ELIXIR25 EOSC moving to a service delivery focus with nodes to deliver for health research.

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#ELIXIR25 kicking off after the housekeeping. Looking forward to the Genome Canada keynote

10 months ago 0 0 1 0

Ready for #ELIXIR2025 @elixir-europe.org, looking forward to reconnecting with EU bioinformatics after my time in Aotearoa NZ. Will be posting about the sessions and workshops I have selected (mostly about cancer genomics and DREs) the coming days.

10 months ago 4 0 1 0

Pairwise graph edit distance characterizes the impact of the construction method on pangenome graphs. #PangenomeGraphs #Bioinformatics 💻 🧬
academic.oup.com/bioinformati...

10 months ago 6 2 0 0
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MLOmics: Cancer Multi-Omics Database for Machine Learning - Scientific Data Scientific Data - MLOmics: Cancer Multi-Omics Database for Machine Learning

MLOmics: Cancer Multi-Omics Database for Machine Learning 🧪 🧬🖥️ www.nature.com/articles/s41...

10 months ago 10 3 0 0
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ELIXIR releases new international strategy | ELIXIR ELIXIR has released an updated international strategy to guide its engagement and collaborations beyond Europe. The revised framework outlines how ELIXIR will work with international initiatives and…

📣 ELIXIR has released an updated international strategy to guide its engagement and #collaborations beyond Europe 🌍.
Find out how 🙌 ELIXIR will work with international initiatives and partner regions worldwide to address #lifescience data challenges 👉 elixir-europe.org/news/interna...

10 months ago 13 5 0 1
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Trump administration halts Harvard’s ability to enroll international students Homeland security secretary Kristi Noem posts copy of department’s letter to university on X

www.theguardian.com/us-news/2025.... The attack on an academic institution like Harvard is very similar to what happened in the 1930s Germany. It needs to be stopped 🧪

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🧪🌎🦑🐠🦈

11 months ago 10 3 0 0
Introduction to genomic resources by NCIG Deputy Director, Azure Hermes
Introduction to genomic resources by NCIG Deputy Director, Azure Hermes YouTube video by studentsatcop15

Hear from @azurehermes.bsky.social on the importance of new culturally appropriate genomic resources for Aboriginal and Torres Strait Islander peoples.

🧬 Explore the resources: tinyurl.com/4s8vpyup

#Genomics #IndigenousGenomics #BridgingTheGap
@ncig2013.bsky.social @ausgenomics.bsky.social

11 months ago 10 7 0 0

What do nearly 300,000 American genomes reveal? Ancestry isn’t a box—it's a gradient. The All of Us cohort shows how deeply entangled our histories are. #Genomics #Anthropology #Admixture #HumanEvolution #PopulationGenetics

11 months ago 5 1 1 0