Laurens van de Wiel
@laurensvdwiel.bsky.social
Postdoc in labs of @mwheelermd.bsky.social and @sbmontgom.bsky.social @Stanford - Exploring the 🧬 basis of rare diseases through multi-omic data integration 👨💻| ❤️ Computer Science best practices in biology | https://www.wiel.science
Reposted by Laurens van de Wiel
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
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
October 17, 2025 at 4:31 PM
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
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
Reposted by Laurens van de Wiel
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
"MetaDome 2.0: Aggregation of genetic variants across homologous human protein domains improves variant impact investigation"
#ASHG25 Thursday afternoon poster 4109T
#RareDisease #Research
October 16, 2025 at 5:28 PM
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
"MetaDome 2.0: Aggregation of genetic variants across homologous human protein domains improves variant impact investigation"
#ASHG25 Thursday afternoon poster 4109T
#RareDisease #Research
Reposted by Laurens van de Wiel
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”? 🧵 ⬇️
June 8, 2025 at 5:39 PM
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”? 🧵 ⬇️
Reposted by Laurens van de Wiel
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?
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?
May 23, 2025 at 4:25 PM
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?
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?
Reposted by Laurens van de Wiel
I rebuilt the torrent file on archive.org/details/2025... and it should be all set.
CDC datasets uploaded before January 28th, 2025 : Centers for Disease Control and Prevention : Free Download, Borrow, and Streaming : Internet Archive
An archive of all CDC datasets uploaded to https://data.cdc.gov/browse before January 28th, 2025. Excludes corrupt datasets and data not publicly accessible.
archive.org
February 14, 2025 at 3:04 AM
I rebuilt the torrent file on archive.org/details/2025... and it should be all set.
Reposted by Laurens van de Wiel
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... 🧵
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...
forms.gle
February 11, 2025 at 5:47 AM
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... 🧵
Reposted by Laurens van de Wiel
🚨 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 by Laurens van de Wiel
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/...
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...
www.pnas.org
December 12, 2024 at 3:43 PM
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/...
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
Bluesky for Science
Starter packs for genomics, bioinformatics, #Rstats, Nextflow. Moderation lists. Feeds. Let's rebuild the old scitwitter community and keep this place nice
blog.stephenturner.us/p/bluesky-fo... 🧬🖥️🧪
Starter packs for genomics, bioinformatics, #Rstats, Nextflow. Moderation lists. Feeds. Let's rebuild the old scitwitter community and keep this place nice
blog.stephenturner.us/p/bluesky-fo... 🧬🖥️🧪
Bluesky for Science
Bluesky starter packs for genomics, bioinformatics, R, and Nextflow
blog.stephenturner.us
November 17, 2024 at 1:10 AM
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
So proud of my Colleague Maggie!
Now: Maggie Mauer: Transcriptomic-first approach for rare disease diagnostics uncovers global dysregulation of splicing caused by minor spliceosome core gene mutations and identifies candidate novel gene-disease relationship #ASHG24 🧪🧬🖥️
EventPilot Web App
eppro02.ativ.me
November 8, 2024 at 2:45 AM
So proud of my Colleague Maggie!
Reposted by Laurens van de Wiel
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.
November 1, 2024 at 12:10 AM
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.
Reposted by Laurens van de Wiel
I created a genomics+bioinformatics starter pack. If I left you off, *please* reply and I'll add you! go.bsky.app/B5YYBfq
Genomics+Bioinformatics Starter Pack 🧬🖥️
Join the conversation
go.bsky.app
October 22, 2024 at 12:34 PM
I created a genomics+bioinformatics starter pack. If I left you off, *please* reply and I'll add you! go.bsky.app/B5YYBfq
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.
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.
October 21, 2024 at 7:11 PM
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.
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.