Tessera
Folgen

Hope Tanudisastro

@htanudisastro.bsky.social

MD-PhD candidate at the University of Sydney & Garvan Institute. Studying tandem repeats in single-cell contexts w/ @dgmacarthur.bsky.social

28 Posts505 Follower148 Folgt
Jill Moore@moorejille.bsky.social · 7mo ago

Our paper on the newest version of the Registry of candidate cis-Regulatory Elements (cCREs) is out 🧬 Huge thanks to the many collaborators, experimentalists, analysts and software developers who made this work possible — truly a team effort! A "meme-torial" of the science is coming soon 👀

An expanded registry of candidate cis-regulatory elements - Nature

The existing ENCODE registry of candidate human and mouse cis-regulatory elements is expanded with the addition of new ENCODE data, integrating new functional data as well as new cell and tissue types...

nature.com

Christel Depienne@christeldepienne.bsky.social · 11mo ago

After our study on RNU4-2 and RNU5B-1 published in May (Nava et al, Nature Genetics 2025), I am excited to share our new preprint reporting dominant and recessive variants in RNU2-2 as a frequent cause of developmental and epileptic encephalopathy (DEE). 📄 www.medrxiv.org/content/10.1...

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

Variants in spliceosomal small nuclear RNA (snRNA) genes RNU4-2 (ReNU syndrome), RNU5B-1 , and RNU2-2 have recently been linked to dominant neurodevelopmental disorders (NDDs), revealing a major, prev...

medrxiv.org

Molly Przeworski@mollyprz.bsky.social · 11mo ago

In these dark times, it comes as a rare pleasure to highlight @natanaels.bsky.social ‬ & @marcdemanuel.bsky.social's work on germline and somatic mutations in humans. 1/n www.biorxiv.org/cgi/content/...

Collateral mutagenesis funnels multiple sources of DNA damage into a ubiquitous mutational signature

Mutations reflect the net effects of myriad types of damage, replication errors, and repair mechanisms, and thus are expected to differ across cell types with distinct exposures to mutagens, division ...

biorxiv.org

Peter Kraft@peter-kraft.bsky.social · 11mo ago

Multi-ancestry GWAS can increase power and precision, but how should we analyze them? Pooled or stratified? We answer that question in a paper out today in AJHG, led by Julie Dias and Haoyu Zhang. 1/7 www.cell.com/ajhg/fulltex...

Evaluating multi-ancestry genome-wide association methods: Statistical power, population structure, and practical implications

Multi-ancestry GWASs enhance discovery in diverse populations, but optimal methods remain debated. Using theory, simulations, and analyses from the UK Biobank and All of Us, we show that pooled analys...

cell.com

Hope Tanudisastro@htanudisastro.bsky.social · 11mo ago

Check out a new preprint led by @alberthenry.bsky.social & Anne Senabouth exploring causal inference across 28 immune cell types in TenK10K!

Albert Henry@alberthenry.bsky.social · 11mo ago

1. 🚨New preprint: tinyurl.com/tenk10k-causal. We explored causal effects of gene expression in immune cell types on complex traits and diseases by combining single-cell expression quantitative trait loci (sc-eQTL) mapping in 5M+ cells from 1,925 donors in TenK10K study and GWAS. 🧵

Nicky Whiffin@nickywhiffin.bsky.social · 12mo ago

🚨 New preprint led by amazing duo @rociorius.bsky.social and @alexblakes.bsky.social in collaboration with @cassimons.bsky.social, @dgmacarthur.bsky.social and many other amazing folks! ❤️ We describe the clinical phenotype of a recessive NDD associated with biallelic variants in RNU4-2 🧬 See 🧵👇

@alexblakes.bsky.social · 12mo ago

I am absolutely delighted to share our work describing a new *recessive* condition caused by variants in #RNU4-2. Yes, that #RNU4-2! tinyurl.com/3j9r56s8 @rociorius.bsky.social @yuyangchen.bsky.social @gregfindlay.bsky.social @dgmacarthur.bsky.social @cassimons.bsky.social @nickywhiffin.bsky.social

Hope Tanudisastro@htanudisastro.bsky.social · 12mo ago

#HGSA2025 week kicks off with the OurDNA symposium tomorrow (with a preview of the OurDNA browser!) Register to attend online here👇

Daniel MacArthur@dgmacarthur.bsky.social · last yr.

Hey Australian genetics/genomics friends: the OurDNA Symposium will be in Sydney on 14 August, just before the HGSA meeting. Learn more about inclusive recruitment for genomics and get a preview of the OurDNA variant browser! events.humanitix.com/ourdna-sympo...

Cedric Boeckx@cedricboeckx.bsky.social · 12mo ago

“findings suggest the existence of tens of thousands of enhancers that remain undiscovered by currently available chromatin data” 🧪🧬

Axel Visel@axelvisel.bsky.social · 12mo ago

Hiding in plain sight - how close are we to mapping ALL 🧬enhancers🧬 in the genome? Our new paper by Mannion et al. takes a systematic look at "hidden enhancers" and why they remain so hard to find. With @mosterwalder.bsky.social, @jlopezrios.bsky.social & many more www.nature.com/articles/s41...

A busy tool wall in a shed. At the bottom there are instructions saying "Find the 10 hidden enhancers!" Across the wall between the tools are 10 enhancers, represented as DNA helices, but they are difficult to find in the style of a "hidden object" puzzle. Original photo by Lachlan Donald, https://www.flickr.com/photos/lox/9408028555
Jeffrey Pullin@jeffreypullin.bsky.social · last yr.

Very excited to share new work from my PhD on a new software package for eQTL mapping: quasar. The quasar software package is a C++ program designed to provide a flexible and efficient eQTL mapping. www.medrxiv.org/content/10.1...

Flexible and efficient count-distribution and mixed-model methods for eQTL mapping with quasar

Identifying genetic variants that affect gene expression, expression quantitative trait loci (eQTLs), is a major focus of modern genomics. Today, various methods exist for eQTL mapping, each using dif...

medrxiv.org

Simon Fisher@profsimonfisher.bsky.social · 12mo ago

In another milestone for human genetics, the world's largest set of whole-genome DNA sequences now encompasses data from nearly half a million people, described in this new @nature.com paper from @ukbiobank.bsky.social: 🧪👇

Whole-genome sequencing of 490,640 UK Biobank participants - Nature

A study reports whole-genome sequences for 490,640 participants from the UK Biobank and combines these data with phenotypic data to provide new insights into the relationship between human variation a...

nature.com

Christy LaFlamme (she/her)@cwlaflamme.bsky.social · last yr.

Such a wonderful experience at this year’s Leena Peltonen School for Human Genomics @ Wellcome Genome, UK. Thank you to the organizers for putting this together! Caught up with old friends and made so many new friends. Feeling immensely uplifted for the future of human genetics research! #lpshg2025

BildBildBildBild
Charlie Pugh@cwjpugh.bsky.social · last yr.

New preprint in collaboration with @paulinanunezv.bsky.social supervised by @jonnyfrazer.bsky.social and Mafalda Dias – we propose a simple approach to improving zero-shot variant effect prediction in pre-existing protein and genome language models: 🧶 1/n www.biorxiv.org/content/10.1...

From Likelihood to Fitness: Improving Variant Effect Prediction in Protein and Genome Language Models

Generative models trained on natural sequences are increasingly used to predict the effects of genetic variation, enabling progress in therapeutic design, disease risk prediction, and synthetic biolog...

biorxiv.org

Zornitza Stark@zornitza.bsky.social · last yr.

🤗 Hugely excited to share our work on automating iterative reanalysis in #raredisease, preprint out: www.medrxiv.org/content/10.1... 🤖🧬 github.com/populationge... A superb collaboration with @dgmacarthur.bsky.social @cassimons.bsky.social @heidirehm.bsky.social @ksamocha.bsky.social and many more!

Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts

Reanalysis of genomic data in rare disease is highly effective in increasing diagnostic yields but remains limited by manual approaches. Automation and optimization for high specificity will be necess...

medrxiv.org

Hope Tanudisastro@htanudisastro.bsky.social · last yr.

The TenK10K Phase 1 dataset is out! A mammoth effort to generate and analyze paired WGS + scRNA-seq at scale - already yielding exciting insights, with many more to come.

Anna Cuomo@annasecuomo.bsky.social · last yr.

📢 new preprint alert: So so excited to share our analysis on the impact of common and rare variants on single-cell gene expression in blood, using WGS and scRNA-seq data from nearly 2,000 individuals and 5.4m cells as part of TenK10K phase 1 🧬 www.medrxiv.org/content/10.1... 🧵👇 (1/n)