iiinova — where your digital self keeps evolving

Reposted by Laurens van de Wiel

GREGoR Consortium @gregor-research.bsky.social · 27/02/2026

This Rare Disease Day 🧬, we share how GREGoR 🫛 bridges the diagnostic gap in rare disease by developing and applying cutting-edge technologies to discover the causes of unsolved genetic disorders and sharing data to accelerate discovery. 🎯 #GREGoR #NIHResearch #RareDisease

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Reposted by Laurens van de Wiel

GREGoR Consortium @gregor-research.bsky.social · 12/11/2025

New in @nature.com! “GREGoR: Accelerating Genomics for Rare Diseases” highlights how the GREGoR Consortium is advancing rare disease discovery through data sharing, multi-omics, and next-gen sequencing across 7,500+ individuals in 3,000+ families. 🧬 www.nature.com/articles/s41...

nature.com

GREGoR: accelerating genomics for rare diseases - Nature

The GREGoR consortium provides foundational resources and substrates for the future of rare disease genomics.

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Reposted by Laurens van de Wiel

GREGoR Consortium @gregor-research.bsky.social · 17/10/2025

Heading to the poster session Friday afternoon at #ASHG25? Stop by Dr. Laurens van de Wiel's (@laurensvdwiel.bsky.social) poster to learn more about: "ESMO-MD: Evolutionary Scale Model Optimized on Meta-Domains learns human protein domain embeddings for variant effect prediction" Poster 4033F

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Reposted by Laurens van de Wiel

GREGoR Consortium @gregor-research.bsky.social · 16/10/2025

Dr. Laurens van de Wiel (@laurensvdwiel.bsky.social) presents: "MetaDome 2.0: Aggregation of genetic variants across homologous human protein domains improves variant impact investigation" #ASHG25 Thursday afternoon poster 4109T #RareDisease #Research

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Reposted by Laurens van de Wiel

Kate (Kathryn) Lawrence @itskatelawrence.bsky.social · 08/06/2025

Excited to share my first PhD paper in the @sbmontgom.bsky.social lab with @tamigj.bsky.social (www.biorxiv.org/content/10.1...)! Standard QTL methods treat each gene independently. But what if a single variant regulates multiple nearby genes at once - what we call “allelic proxitropy”? 🧵 ⬇️

Standard methods are equivalent to a flashlight, looking at each gene independently. We combine signals from multiple genes, turning a floodlight onto the genome.

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Reposted by Laurens van de Wiel

Shahid Siddique @nemaplant.bsky.social · 23/05/2025

New paper alert! A chromosome-scale genome of Meloidogyne hapla. A devastating plant pathogen. But this is not just another genome. www.biorxiv.org/content/10.1... 🧵 NO CANONICAL TELOMERES but a novel 16-mer repeat at chromosome ends. A new mechanism for chromosome-end maintenance?

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Reposted by Laurens van de Wiel

Luke Hillary @lukehillary.bsky.social · 11/02/2025

We're looking for suggestions on how to update and adapt the Minimum Information about an Uncultured Viral Genome (MIUVIG) reporting standard. What works? What needs updating? Check out the survey forms.gle/DPHvMFe8Gsdj... 🧵

forms.gle

MIUViG Update Survey

Since the development of the Minimum Information about an Uncultured Viral Genome (MIUViG) standard (Roux et al. 2019), there has been an explosion in the number of genomic data generated on unculture...

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Reposted by Laurens van de Wiel

Moez Dawood @moezdawood.bsky.social · 20/12/2024

🚨 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! 🧬

arxiv.org

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...

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Reposted by Laurens van de Wiel

Joanna Masel @joannamasel.bsky.social · 12/12/2024

We identified protein domains in LUCA (Last Universal Common Ancestor). Their distinctive amino acid usage reveals the order amino acids were added to the genetic code, based mostly on size. Older proteins hint at earlier alternative codes. 1/15 @seekingluca.bsky.social www.pnas.org/doi/10.1073/...

pnas.org

Order of amino acid recruitment into the genetic code resolved by last universal common ancestor’s protein domains | PNAS

The current “consensus” order in which amino acids were added to the genetic code is based on potentially biased criteria, such as the absence of s...

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Laurens van de Wiel @laurensvdwiel.bsky.social · 17/11/2024

Strongly recommending new Sky-ers to have a look at this blog. Lists multiple genomics / bioinformatics focused starter packs and two block/mute lists to make it less like the other place

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Reposted by Laurens van de Wiel

Michael Hoffman @michaelhoffman.bsky.social · 06/11/2024

Now: discussion on policy in AI/ML in human genetics and genomics #ASHG24 🧪🧬🖥️

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Laurens van de Wiel @laurensvdwiel.bsky.social · 06/11/2024

Me trying to keep in the loop on what is happening at #ASHG24 while trying to ignore negativity on my timeline

Demon shaped figure in dark side of a room seemingly haunting a girl in deep thoughts

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Reposted by Laurens van de Wiel

Jonathan Pritchard @jkpritch.bsky.social · 01/11/2024

I want to try something new at #ASHG24 this year: I'm going to block some time on Friday afternoon to meet with any trainees who would be interested to chat on any topic.

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Reposted by Laurens van de Wiel

Stephen Turner @stephenturner.us · 22/10/2024

I created a genomics+bioinformatics starter pack. If I left you off, *please* reply and I'll add you! go.bsky.app/B5YYBfq

go.bsky.app

Genomics+Bioinformatics Starter Pack 🧬🖥️

Join the conversation

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Laurens van de Wiel @laurensvdwiel.bsky.social · 21/10/2024

Twitter has become such a cesspool of toxic or grifting accounts polluting my timeline. BlueSky reminds me of how great Twitter was long ago. Follow me for content on rare diseases, bioinformatics, protein sequence and structure utilization of deciphering the genome and spliceosome.

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