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Posts by Tuuli Lappalainen

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Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders - Nature Saturation genome editing of RNU4-2 identifies the functional and clinical impact of variants across the entire gene and delineates variants that cause a new recessive neurodevelopmental disorder distinct from ReNU syndrome.

Stunning illustration of how advances in cellular genomics can disentangle links between gene variants & clinical outcomes. Here, saturation editing revealed distinct neurodevelopmental disorders involving the same non-protein-coding gene. 🙌 @nickywhiffin.bsky.social @gregfindlay.bsky.social & co🧬🔬🧪

1 week ago 33 11 2 1
Long-Read Sequencing Uppsala, November 2–4, 2026 #LRUA26: Empower your research with long-read sequencing technologies and connect with experts, peers, and industry leaders in Uppsala this November.

📣Registration and abstract submission now open for the Long‑Read Sequencing Uppsala 2026 meeting, taking place November 2–4!

For abstract submission, registration, and the preliminary program, please visit the conference website:

👉 lrua.se

1 week ago 5 6 0 0

”Nykypäivänä onkin varsin selvää, että vihreät ja globalisaatiokriittinen vasemmisto olivat oikeassa. Vapaakauppa ilman yhteiskuntavastuuta oli juuri niin tuhoisaa rauhalle, vakaudelle, sosiaaliselle oikeudenmukaisuudelle ja ympäristölle kuin mistä varoitettiin.”

1 week ago 22 6 0 1

The 5y survival rate for pediatric ALL in 1970 was under 20%. Today it is over 95%. Modern cancer treatment is the result of a lot of dedicated scientists rowing together to save people they have never met, and fuck anyone who says otherwise.

2 weeks ago 123 26 3 2
NYGC Genomic AI Fellows - 101 Avenue of the Americas, 7th Floor, New York, New York - New York Genome Center Find a career with New York Genome Center

@nygenome.org is hiring Genomic AI Fellows! (fancy postdoc positions) If you're interested in working at the interface of AI and genomics in a great environment please apply at: jobs.silkroad.com/NYGenome/Car...

2 weeks ago 14 15 0 0

Authors can just email the editor.

2 weeks ago 6 0 2 0

This. A thousand times this.

2 weeks ago 42 10 1 0

One year during our Columbia PhD program recruitment day there was a total subway meltdown with half the the faculty stuck in tunnels, missing their scheduled meetings.

3 weeks ago 4 1 1 0

Happy and honored to receive the 2026 ESHG award! Many thanks to past and present lab members and collaborators; it’s our work together that is recognized here.

See you at the @eshg.bsky.social meeting in Gothenburg 🇸🇪 in June!

3 weeks ago 50 7 6 0

👀 Absolute banger paper. Leveraging cattle/pig GWAS/eQTL to help explain the missing regulatory gap in humans. Consistent with previous works, selection makes identifying relevant eQTLs in humans challenging.

www.biorxiv.org/content/10.6...

3 weeks ago 33 9 2 1
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Sweden continues major investments in research and life science, with more KAW foundation funding for trainee positions in the Data-Driven Life Science Program, with total investment of 330 MEUR / 380 MUSD!

3 weeks ago 11 4 0 0

On Monday, Johan Rockstrom spoke at PBL in The Hague. His presentation was perfect, the science well explained. It’s bad, worse than we think (as usual), we need to take measures, it can be done, tipping points, acceleration of acceleration, food systems, move away from fossil fuels. Questions from

3 weeks ago 20 6 2 1

Junk RNA

4 weeks ago 17 8 0 1

Democratic consultants: To replicate Mamdani’s success with the young people we must appeal to their short attention spans with memes and TikTok

Mamdani (actual quote): In the fifth century in what we now know as Ireland, a British warlord named Coroticus had laid waste to the countryside

1 month ago 8057 1850 2 72

I am reviewing a simply amazing paper from a relatively young US-based lab, which is in danger of shutting its doors later this year. My emotions are all over the place.

The fact that this does not uniquely identify the lab I’m referring to just deepens the tragedy of this moment in US science.

1 month ago 369 71 5 4
Data Organization in Spreadsheets
Karl W. Broman
& Kara H. Woo
Pages 2-10 | Received 01 Jun 2017, Accepted author version posted online: 29 Sep 2017, Published online: 24 Apr 2018

    1. Introduction
    2. Be Consistent
    3. Choose Good Names for Things
    4. Write Dates as YYYY-MM-DD
    5. No Empty Cells
    6. Put Just One Thing in a Cell
    7. Make it a Rectangle
    8. Create a Data Dictionary
    9. No Calculations in the Raw Data Files
    10. Do Not Use Font Color or Highlighting as Data
    11. Make Backups
    12. Use Data Validation to Avoid Errors
    13. Save the Data in Plain Text Files

ABSTRACT

Spreadsheets are widely used software tools for data entry, storage, analysis, and visualization. Focusing on the data entry and storage aspects, this article offers practical recommendations for organizing spreadsheet data to reduce errors and ease later analyses. The basic principles are: be consistent, write dates like YYYY-MM-DD, do not leave any cells empty, put just one thing in a cell, organize the data as a single rectangle (with subjects as rows and variables as columns, and with a single header row), create a data dictionary, do not include calculations in the raw data files, do not use font color or highlighting as data, choose good names for things, make backups, use data validation to avoid data entry errors, and save the data in plain text files.

Data Organization in Spreadsheets Karl W. Broman & Kara H. Woo Pages 2-10 | Received 01 Jun 2017, Accepted author version posted online: 29 Sep 2017, Published online: 24 Apr 2018 1. Introduction 2. Be Consistent 3. Choose Good Names for Things 4. Write Dates as YYYY-MM-DD 5. No Empty Cells 6. Put Just One Thing in a Cell 7. Make it a Rectangle 8. Create a Data Dictionary 9. No Calculations in the Raw Data Files 10. Do Not Use Font Color or Highlighting as Data 11. Make Backups 12. Use Data Validation to Avoid Errors 13. Save the Data in Plain Text Files ABSTRACT Spreadsheets are widely used software tools for data entry, storage, analysis, and visualization. Focusing on the data entry and storage aspects, this article offers practical recommendations for organizing spreadsheet data to reduce errors and ease later analyses. The basic principles are: be consistent, write dates like YYYY-MM-DD, do not leave any cells empty, put just one thing in a cell, organize the data as a single rectangle (with subjects as rows and variables as columns, and with a single header row), create a data dictionary, do not include calculations in the raw data files, do not use font color or highlighting as data, choose good names for things, make backups, use data validation to avoid data entry errors, and save the data in plain text files.

Every day is a good day for sharing one of the most useful papers about research data ever written. PLEASE get your people to understand and follow this advice.

www.tandfonline.com/doi/full/10....

1 month ago 1050 402 31 47
Video

Happy St. Patrick's Day, New York.

1 month ago 39151 9662 1024 3182
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Pitäisikö puhua brutto- vai nettovelasta? - Työn ja talouden tutkimus LABORE Suomen velkaantuminen on ollut viime vuosien kestohuolenaiheita. Erilaisilla mittareilla saadaan kuitenkin erilaisia tuloksia. Bruttovelassa mitattuna Suomi on EU:n keskitasoa. Jos julkisesta velasta ...

Kuinka vaikeaa on ollut tämänkin artikkelin pointtien sisäistäminen suomalaisille taloustieteilijöille? Kerrataan:
1) Suomi on euromaa, joten rahoituskestävyydessä vertaillaan muihin euromaihin.
2) Mielekäs vertailutapa on nettovelkasuhde.
3) Suomi vertailussa euromaiden aatelia.
4) EU:n ...

1 month ago 180 53 4 8
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Köyhyys | Ruokaa ei riitä, joten ruokajono Helsingin Myllypurossa lopetetaan Hävikkiruokaa ei ole enää tarpeeksi jaettavaksi, joten Myllypuron leipäjonona tunnettu ruoka-apu lopetetaan kokonaan.

Suomalainen dystopia nousi sitten seuraavalle tasolle.

Ruokajono, joka perustettiin 30 vuotta sitten tilapäiseksi avuksi, lopetaan nyt, koska tarve ruoka-avulle on niin huutava, ettei siihen pystytä enää vastaamaan vaan liian moni avunhakija on pitänyt käännyttää pois.

www.hs.fi/helsinki/art...

1 month ago 253 76 12 11
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Graph of award probability of R35 and R01 from NIH factbook as a function of review rank percentile. As is apparent, 2025 is a significant departure, with lower award probabilities at all scores <40 and significant departures from norm, where even being in the top 10% is no longer a nearly certain indicator of success.

Data source: https://report.nih.gov/nihdatabook/report/302

Graph of award probability of R35 and R01 from NIH factbook as a function of review rank percentile. As is apparent, 2025 is a significant departure, with lower award probabilities at all scores <40 and significant departures from norm, where even being in the top 10% is no longer a nearly certain indicator of success. Data source: https://report.nih.gov/nihdatabook/report/302

The data is in: the NIH goalposts have shifted.

What were once almost certain fundable scores have become coin flips and what used to be likely grants have become aspirational, leading to fewer awards.

Another manifestation of how HHS policies have led to fewer awards and less science.

1 month ago 694 423 19 62

The difference between Finnish and EU average unemployment rate.

The red line marks the time the most right wing government in Finnish history replaced Sanna Marin’s center left government.

1 month ago 74 18 5 0

Oma kokemus lähinnä pandemiakeskusteluista, mutta silloin otin linjaksi että vastailen tasan kun itseä huvittaa/kiinnostaa, muut vaan miettimättä ohitan. Tietty avoimessa somessa saa kaikenlaisia kommentteja ja täggäyksiä eikä niistä kannattaa välittää/valittaa. Alatyylisistä toki blokki.

1 month ago 4 0 1 0
Research engineer - Uppsala University Research engineer, Department of Organismal Biology, Uppsala University

The @scilifelab.se Ancient DNA Unit is recruiting a (permanent) Research Engineer for planning user projects and generating #aDNA 🧬 data:

Application deadline: March 25th 🧪🏺

www.uu.se/en/about-uu/...

1 month ago 20 31 0 0

Made a short video as a response. 3 questions remain for me.

1) What is the definition of a "DEl activity," and how is it being communicated to NIH staff so they can determine whether a grant qualifies?

(Continued below)

1 month ago 115 50 6 8

In my utopian vision of the future, instead of offloading all the pointless, annoying work tasks (like reports that none one will read and needlessly opaque forms) to robots, we restructure work and society so that the pointless tasks don't happen at all.

1 month ago 2391 379 6 35
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White House stalls release of approved US science budgets The US Congress rejected sweeping cuts to science agencies. But the NIH, the NSF and NASA have had their spending slowed.

Congress rejected massive cuts to US science budgets for 2026, but much of the money still isn’t flowing to researchers.

The culprit? The White House Office of Management and Budget (OMB) is quietly slow-walking the release of funds. 🧵👇

1 month ago 1127 758 22 82
Bioinformatician/Staff Scientist in Medical Genomics Do you want to help us improve human health and understand life on Earth? Make your mark by shaping the future to enable or deliver life-changing science to solve some of humanity’s greatest challenge...

I have an opening for a staff scientist or bioinformatician in my group at the Sanger Institute (closing date 24 March). Our current projects focus on disentangling rare and common variant contributions to rare neurodevelopmental conditions and to neurodevelopmental and perinatal traits. 1/2

1 month ago 14 13 1 0

I understand why chatbot cheating happens but every time I read about it I want to gently remind everyone that the point of schoolwork is not for the submission to exist. Teachers are not just greedy for more essays or solved equations. The point is to do the work WITH YOUR OWN BRAIN, FOR LEARNING.

1 month ago 3721 864 99 49

Minua alkaa oikeasti pelottaa, että suomalainen eliitti ja media ei tajua sitä, kuinka todella pihalla valtavirtainen makrotaloustiede on taloudellisesta todellisuudesta. Yli 10 prosentin työttömyydessä siunataan jopa 15 mrd. euron sopeutusta tuleville vuosille odottaen suhdanteen korjaavan.
#tiede

1 month ago 267 50 7 4
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The culmination of a lot of excellent work, @marlmatos.bsky.social defending her PhD thesis today. Co-mentored by @tuuliel.bsky.social, exceptional insights into molecular quantitative trait loci in CD4+ T cells

@einsteinmededu.bsky.social

2 months ago 9 1 0 2