iiinova — where your digital self keeps evolving

Reposted by Elston D’Souza

Nicky Whiffin @nickywhiffin.bsky.social · 05/08/2026

We discuss the implications of these features for variant classification. Finally, we introduce RNUdb (lnkd.in/eWfTDSHY) a tool to facilitate snRNA variant classification (by super talented @elstondsouza.com). It is still being developed, but works for RNU4-2 if you want to give it a try. 5/7

lnkd.in

This link will take you to a page that’s not on LinkedIn

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Reposted by Elston D’Souza

Nicky Whiffin @nickywhiffin.bsky.social · 05/08/2026

📣 New preprint: “Guidance for clinical variant classification in genes for spliceosomal small nuclear RNAs” www.medrxiv.org/content/10.6... snRNAs are increasingly recognised as major players in rare disorders (RNUopathies), yet interpreting variants in these genes is a major challenge. 🧵 1/7

medrxiv.org

Guidance for clinical variant classification in genes for spliceosomal small nuclear RNAs

Background: Small nuclear RNAs (snRNAs) are RNA components of the major and minor spliceosomes that play a core role in splice-site recognition and control of the splicing process. Variants in genes t...

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Reposted by Elston D’Souza

Gen Wojcik @genandgenes.bsky.social · 12/12/2024

Re:science, an issue is that ppl don't have a great grasp of stats. Even those w/quant bkgds. Populations & systems aren't the same as a person. If you have X% risk, you don't get only X% of the outcome. Also, diff in risk is not always a meaningful diff. A person is not a system to be optimized!

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Nicky Whiffin @nickywhiffin.bsky.social · 22/11/2024

Honoured to be recognised by @gensocuk.bsky.social and humbled to be named alongside so many incredible geneticists 🤯🧬 But science is a team sport: this is really down to, and for, my absolutely incredible team who inspire, drive, and motivate me every day 🌟 #teamWork #youGuysRock 1/2

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Oded Rechavi @odedrechavi.bsky.social · 20/11/2024

Offering a free bowl of gummy bears is the best value-for-money to make your guests/co-workers feel pampered

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Sasha Gusev @sashagusevposts.bsky.social · 16/11/2024

I wrote about Eric Turkheimer's recent book on "the nature-nurture debate", which should be of interest to people thinking not just about the genetics of behavior but complex traits more broadly. A 🧵:

open.substack.com

Book Review: Eric Turkheimer's "Understanding the Nature-Nurture Debate"

Or, some thoughts on The Gloomy Prospect and the Gloomy Present

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Reposted by Elston D’Souza

Nicky Whiffin @nickywhiffin.bsky.social · 15/11/2024

I couldn't spot a starter pack for rare disease / clinical genomics, so I started one: go.bsky.app/SUWZ9Hw Very much a work in progress, and biased by who I have already found here, so please suggest people to add! Self-nominations encouraged. #ClinicalInformatics #genomics #bioinformatics 🖥️🧬

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Reposted by Elston D’Souza

Nicky Whiffin @nickywhiffin.bsky.social · 11/11/2024

Back home and reflecting on a fantastic week at #ASHG24. It was wonderful to reconnect with friends, make new connections, and be surrounded by amazing science! 🧬 This was my first time attending ASHG with many of my amazing team (see below). They did an incredible job representing the group 🥰 1/2

Picture of six people smiling in the snow in the city of Denver

A picture of Yuyang Chen giving a presentation. In the background a large screen has a slide saying "Variants in RNU4-2 cause a neurodevelopmental disorder (ReNU syndrome)". In the foreground, many people sit listening to the talk.

A poster is being presented while others listen.

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Reposted by Elston D’Souza

RJ Andrews @infowetrust.com · 30/10/2024

THE SIMPSONS PARADOX

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Elston D’Souza @elstondsouza.com · 27/10/2024

A starter pack of starter packs 😛 Love it!

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Carl T. Bergstrom @carlbergstrom.com · 25/10/2024

Your periodic reminder that ChatGPT is not a research tool. (The purification theorem was presented in Harsanyi's 1973 Int J Game Theory paper, not in the famous Management Science trilogy.)

The original paper that laid out the purification theorem was John C. Harsanyi's 1967-1968 work titled "Games with Incomplete Information Played by ‘Bayesian’ Players," which was published in a three-part series in Management Science. These papers developed the foundation of Harsanyi's approach to games with incomplete information, including the purification theorem.

Here are the references for the original papers:

Harsanyi, J. C. (1967). Games with Incomplete Information Played by ‘Bayesian’ Players, Part I. The Basic Model. Management Science, 14(3), 159-182.
Harsanyi, J. C. (1968). Games with Incomplete Information Played by ‘Bayesian’ Players, Part II. Bayesian Equilibrium Points. Management Science, 14(5), 320-334.
Harsanyi, J. C. (1968). Games with Incomplete Information Played by ‘Bayesian’ Players, Part III. The Basic Probability Distribution of the Game. Management Science, 14(7), 486-502.

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Elston D’Souza @elstondsouza.com · 18/10/2024

Hope not Hate as well as the Guardian doing an amazing job of exposing crap science and the con men behind it. www.theguardian.com/science/2024...

theguardian.com

US startup charging couples to ‘screen embryos for IQ’

Heliospect’s services were marketed at up to $50,000 for 100 embryos, undercover footage shows

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Kevin Bird @stairwaytokevin.bsky.social · 17/10/2024

Wow, the Guardian journalists who just yesterday published about the network of race scientists getting funding from tech CEOs just broke another story that this group has accessed UK Biobank data without authorization. This is seriously bad for the integrity of science & a massive failure by UKBB

theguardian.com

‘Race science’ group say they accessed sensitive UK health data

Exclusive: Fringe network recorded boasting of securing data from UK Biobank trove donated by 500,000 volunteers

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Reposted by Elston D’Souza

Sasha Gusev @sashagusevposts.bsky.social · 13/10/2024

I wrote a bit about the two very interesting studies of siblings/families from last week. Tan et al. family GWAS (medrxiv.org/content/10.1...) and Sidorenko et al. sibling heritability estimates (nature.com/articles/s41...).

open.substack.com

What are we learning from the genes of siblings?

Family-based genetic analyses come of age

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Elston D’Souza @elstondsouza.com · 11/10/2024

Cats were never domesticated so much as they live symbiotically next to us lesser mortals 😂

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Kneel Downe @kneeldowne.bsky.social · 09/10/2024

Meanwhile. Elsewhere and Elsewhen...

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Elston D’Souza @elstondsouza.com · 08/10/2024

Expect the next Nobel Prize in Physics to be a biologist because biology is applied chemistry and chemistry is applied physics.

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Reposted by Elston D’Souza

Bantshire University @bantshireuni.bsky.social · 25/08/2024

Applied Statistics

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Elston D’Souza @elstondsouza.com · 26/09/2024

Oldpassword+n had been my go to until my Twitter got hacked. I seriously wish institution-wide password managers were implemented rather than this outdated and ineffective policy.

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Elston D’Souza @elstondsouza.com · 26/09/2024

The one thing I really love about Rstudio and hate about Python IDEs is the line by line evaluation in Rstudio as opposed to the block evaluation in something like Jupyter. Its so useful in data analysis when playing around with data frames. I cant wait to try this out.

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Elston D’Souza @elstondsouza.com · 26/09/2024

Consumer genetics has been along for a while but I really now worry retailers are promising that the results of some out-of-date GWAS result is make changes to diet to improve skincare. National dietary guidelines have been made for a reason. They work for nearly* all of us.

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Graham Coop @gcbias.bsky.social · 21/09/2024

My lab read this paper www.biorxiv.org/content/10.1... for journal club, and had some thoughts on the strong claims made about the number of signals of selection found.

biorxiv.org

Pervasive findings of directional selection realize the promise of ancient DNA to elucidate human adaptation

bioRxiv - the preprint server for biology, operated by Cold Spring Harbor Laboratory, a research and educational institution

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danah boyd @zephoria.bsky.social · 19/09/2024

Calling all science/tech folks: Do you have thoughts about xkcd? Parker Bach & I are trying to understand the role that xkcd plays in the scientific/technical community. Will you share your thoughts? forms.office.com/pages/respon... And since we are doing a snowball sample, please pass the word!

forms.office.com

Microsoft Forms

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Brendan Nyhan @brendannyhan.bsky.social · 19/09/2024

We need to be honest with people who want to get PhDs and not just about the job market lucris.lub.lu.se/ws/portalfil...

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Reposted by Elston D’Souza

Michel Nivard @michelnivard.bsky.social · 19/09/2024

I made a starter pack full of statistical genetics (adjacent) scientists. it covers all flavours of behaviour, psychiatric, social science and population genetics people. One click follow all of em! let me know if I missed key people!

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