Daniel Nilsson
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genomicsd.bsky.social
Daniel Nilsson
@genomicsd.bsky.social
Coffee addict, vegan, bioinformatician, philosopher, engineer, clinical scientist to research rare disease genomics, UNIX-beard, father and world-improver-wannabe.
Reposted by Daniel Nilsson
Oil is the most Lovecraftian thing that actually exists.

You're telling me that there's a black ichor under the earth made from the ancient dead, whose burning can realize all the dreams of man, but only at the price of slowly returning the earth to its primordial state?
November 6, 2025 at 9:38 PM
Reposted by Daniel Nilsson
New study of 800K+ genomes from gnomAD reveals most “pathogenic” variants in healthy people aren’t truly disease-tolerant. They are explained by annotation errors, mosaicism, or compensatory variants. 🧬
A big step for precision medicine!
www.nature.com/articles/s41...
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database - Nature Communications
Here the authors provide an explanation for 95% of examined predicted loss of function variants found in disease-associated haploinsufficient genes in the Genome Aggregation Database (gnomAD),…
www.nature.com
November 4, 2025 at 3:06 PM
"Det pågår en nattågsrenässans över hela Europa. I land efter land startas nya nattågslinjer. ... Människor älskar att resa hållbart och civiliserat. Samtidigt går Sverige åt helt andra hållet: regeringen drar ner på stöd till nattåg samtidigt som flyget gynnas."
www.mittskifte.org/petitions/ra...
Rädda SJ:s nattåg till Berlin
Det pågår en nattågsrenässans över hela Europa. I land efter land startas nya nattågslinjer, helt enkelt därför att människor älskar att resa hållbart och civiliserat. Samtidigt går Sverige åt helt an...
www.mittskifte.org
October 17, 2025 at 8:08 AM
Reposted by Daniel Nilsson
Accurate somatic small variant discovery for multiple sequencing technologies with DeepSomatic www.nature.com/articles/s41... (read free: rdcu.be/eLny0) github.com/google/deeps...
October 16, 2025 at 7:29 PM
Reposted by Daniel Nilsson
October 4, 2025 at 9:17 AM
Reposted by Daniel Nilsson
Delighted to finally announce a preprint describing the Q100 project! “A complete diploid human genome benchmark for personalized genomics” For which we finished HG002 to near-perfect accuracy: www.biorxiv.org/content/10.1... 🧵[1/14]
A complete diploid human genome benchmark for personalized genomics
Human genome resequencing typically involves mapping reads to a reference genome to call variants; however, this approach suffers from both technical and reference biases, leaving many duplicated and ...
www.biorxiv.org
September 22, 2025 at 5:01 PM
Reposted by Daniel Nilsson
hey bluesky 👋 visa hurdles mean I’m looking for opportunities outside the US. I’m a computational biologist (bacterial + phage genomics, postdoc in Koonin’s group @ NIH). I am interested in teaming up on funding apps. reach out if this resonates!
September 15, 2025 at 5:26 PM
Reposted by Daniel Nilsson
A study published in Nature Food reports that strategic dish swaps at a university residence canteen achieved a 30.7% reduction in carbon footprint and a 6.3% decrease in saturated fatty acid intake. go.nature.com/3HDvOtt 🧪🍎📃#foodstudies
September 1, 2025 at 1:17 AM
Reposted by Daniel Nilsson
Switzerland 🇨🇭 planning a night-train line between Zürich/Basel and Malmö, Sweden 🇸🇪.

Financed with proceeds from air traffic taxation.
August 17, 2025 at 7:40 AM
Reposted by Daniel Nilsson
If you were alive in the 1980s, this is among the most wonderful & truly incredible things you have ever witnessed in your lifetime.
July 28, 2025 at 2:15 AM
Reposted by Daniel Nilsson
URGENT: FlyBase has lost practically all its funding overnight; even user fees are tied up in denied grant funding. 🤬🤯

Any lab using @flybase.bsky.social please donate using the link in post below.

This incredible community, on whose backs our #Drosophila labs depend, can't be left out to dry.
My lab studies bacterial infections. We spend a lot of time looking at (or for) species-specific genetic and genomic databases for hosts and microbes. FlyBase is the best of all—there is literally no comparison. Its existence is under threat. Please donate.
www.philanthropy.cam.ac.uk/give-to-camb...
Drosophila Genetic Database
The Drosophila Genetic Database, FlyBase, is on the brink of collapse due to the sudden termination of the FlyBase NIH grant, which includes salaries for 5 literature curators based at the University ...
www.philanthropy.cam.ac.uk
June 3, 2025 at 5:20 PM
Reposted by Daniel Nilsson
Absolutely insane footage! Strategic Russian aviation getting wiped out on an unprecedented scale.
June 1, 2025 at 12:29 PM
Reposted by Daniel Nilsson
NIH funding supporting the HMMER and Infernal software projects has been terminated. NIH states that our work, as well as all other federally funded research at Harvard, is of no benefit to the US.
May 22, 2025 at 12:42 PM
Reposted by Daniel Nilsson
Scientists, reach out to your local communities about the importance of funding science! Write an op-ed to your local newspaper as part of the #McClintockLetters.

Please spread the word and sign up! DM me if you're interested and need help getting started. I'm trained as a writer and happy to help.
Yes! Scientists, let's share our work with the public. Write an LTE/op-ed/ or guest column in a LOCAL HOMETOWN PAPER, published June 16! #McClintockLetters #SciComm

Share how we serve the public with fed dollars, & insights into fed funded research. Signup + more info: tinyurl.com/McClintockLetters
May 23, 2025 at 6:37 PM
Reposted by Daniel Nilsson
The new Pope, Leo XIV, supports Ukraine, acknowledges Russia’s invasion is imperialist and rife with crimes against humanity. #standwithUkraine
May 10, 2025 at 6:01 PM
Reposted by Daniel Nilsson
TANK vs TESLA

"We've crushed fascism before and we'll crush it again"

- ⁠WW2 veteran Ken, 98, in the tank
May 7, 2025 at 4:46 PM
Reposted by Daniel Nilsson
💯🇺🇸🇺🇦
April 25, 2025 at 12:26 PM
Reposted by Daniel Nilsson
In today's episode of the Night Science Podcast we talk with Martin Schwartz from Yale about the importance of stupidity in science: while learning science makes you feel smart, true scientific discovery often involves feeling stupid, because it means venturing into the unknown.
April 21, 2025 at 11:31 AM
Reposted by Daniel Nilsson
Last night was the 250th anniversary of Paul Revere's midnight ride to warn the Minutemen of approaching British troops.

I want to take a moment to share an excerpt from the Declaration of Independence's grievances against King George III.

Remind you of anyone?
April 19, 2025 at 8:28 PM
Reposted by Daniel Nilsson
Hönorna i äggindustrin hålls instängda i stora fabriker och är avlade till en intensiv äggproduktion, skriver debattören.
Ägg innebär lidande och död – låt oss fira påsken med nya traditioner
Hönorna i äggindustrin hålls instängda i stora fabriker och är avlade till en intensiv äggproduktion, skriver debattören.
www.etc.se
April 18, 2025 at 6:46 AM
Reposted by Daniel Nilsson
🚨I could not be more excited to share our new preprint on saturation genome editing of the small nuclear RNA (snRNA) RNU4-2:
www.medrxiv.org/content/10.1...

A super fun collaboration with incredible duo @gregfindlay.bsky.social @joachimdejonghe.bsky.social from @crick.ac.uk
🧬🖥️🩺

🧵1/12
Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders
Recently, de novo variants in an 18 nucleotide region in the centre of RNU4-2 were shown to cause ReNU syndrome, a syndromic neurodevelopmental disorder (NDD) that is predicted to affect tens of thous...
www.medrxiv.org
April 11, 2025 at 10:00 AM
Reposted by Daniel Nilsson
The strchive.org paper is out!!
The paper describes STRchive as a resource to improve the diagnosis of tandem repeat disorders, then goes beyond it to consider what can be learned about childhood onset and population prevalence of these diseases.
🖥️ 🧬
link.springer.com/article/10.1...
STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci - Genome Medicine
Approximately 8% of the human genome consists of repetitive elements called tandem repeats (TRs): short tandem repeats (STRs) of 1–6 bp motifs and variable number tandem repeats (VNTRs) of 7 + bp moti...
link.springer.com
March 26, 2025 at 8:01 PM
Reposted by Daniel Nilsson
US State Department in 2022: The US will never recognize these illegal attempts to seize territory that does not belong to Russia

Trump envoy Witkoff in 2025: There have been referendums where the overwhelming majority of people indicated they want to be under Russian rule
March 23, 2025 at 5:16 PM
Reposted by Daniel Nilsson
"When a complex system is far from equilibrium, small islands of coherence in a sea of chaos have the capacity to shift the entire system to a higher order."

Iya Prigogine, Noble prize-winning chemist
March 23, 2025 at 4:39 PM