Published today, our reasons for optimism that success rates in drug discovery can be improved by picking the right targets using human genetics: nature.com/articles/s4158…

I break the key findings down panel by panel in this thread: x.com/cureffi/status…

Human embryonic genetic mosaicism and its effects on development and disease go.nature.com/4avnc1e #Review by Sarah M. Waldvogel, Jennifer E. Posey Jennifer Posey & Margaret A. Goodell Peggy Goodell BCMHouston

Great opportunity to submit your latest scientific findings - and participate at #eshg2024 with an oral presentation!
Any intriguing manuscript just submitted/accepted?

Alternative splicing as a source of phenotypic diversity go.nature.com/3yW3Q3V #Review by
Charlotte Wright, Christopher W. J. Smith & Chris Jiggins
Wellcome Sanger Institute Darwin Tree of Life Dept of Zoology Cambridge Biochemistry RNA labs

An interesting paper in European Journal of Human Genetics on the genetics of Intellectual disability (ID) in Northern Finland by Urpa et al. (nature.com/articles/s4143…).

Northern Finland is known for its high prevalence of ID and other NDDs due to multiple population bottleneck events in the recent…

🎉Congratulations to Alexander Hoischen of Radboudumc! He receives the NWO Vici grant for research into genetic disorders where the immune system is impaired: radboudumc.nl/en/news-items/…

Vanaf eind deze maand vergoedt Radboud University @[email protected] geen vliegreizen meer naar bestemmingen die binnen 7 uur met de trein bereikt kunnen worden. Goed werk! 🙌✊

Structural variants (SV) impact more nucleotides per human genome than other forms of genetic variation.

To better understand SV impact, we developed a method to 'shuffle' mammalian genomes and characterize them with single-cell resolution in a pool.

biorxiv.org/content/10.110…

Check out our new paper on how to use single cell data to prioritize candidate disease genes for rare disease by machine learning AJHG Incredible work by Saranya Balachandran & Varun Sreenivasan Tweetorial below:

„Absent from gnomAD“ is not what it used to be w/ the new Genome Aggregation Database v4 release.

We need to be more tolerable for occurrence of rare disease variants in gnomAD (due to UK Biobank I guess). Overall frequencies should be fine though just total absence should not be expected.

Academic clinician–scientists risk becoming an endangered species.

World View from stephen o'rahilly (its pronounced O-RA-hill-EEE) Cambridge University

nature.com/articles/s4159…

And more record opportunities at #RevioHiFiOlympics - our second Revio arrived! Human Genetics Nijmegen, Radboudumc Radboudumc Radboudumc_weet Janneke Weiss Lisenka Vissers

Exciting news! Our latest research on 'Cell type directed design of synthetic enhancers' has been published in nature. We've harnessed deep learning to design enhancers with cell-type specificity. Find our paper here: nature.com/articles/s4158…. Highlights below: [1/n]

Our paper describing a way to infer the phase of rare variant pairs using gnomAD v2 is out now in Nature Genetics.

We hope that the resource we generated will be useful when interpreting rare co-occurring variants in the context of recessive disease.

nature.com/articles/s4158…

Wow… 😍🧬

Excited to share our study in NEJM! We explorer deep trio-exome sequencing as a noninvasive prenatal screening approach. This method, #desNIPT , enables early detection of severe genetic disorders in fetuses even without structural anomalies! OUH Odense Svendborg @SUND_SDU Syddansk Universitet

Delighted that our flagship paper led by Rick Essers on early pregnancy loss is now live in Nature Medicine nature.com/articles/s4159…
An inter-national/-disciplinary endeavour of fantastic collaborators from GROW, Maastricht UMC+, @MaastrichtU, Karolinska Institutet & University of Tartu

#sorrynotsorry

'We thank the reviewers for the helpful suggestions'

Het is Pieter Derks duidelijk geworden: Nederlanders houden niet van politiek. 'We zijn een nuchter volk. Wij stemmen waarschijnlijk gewoon weer op de neoliberale kapitaaldrammers die hun radicalisme het best weten te verstoppen', zegt hij op NPO Radio 1.