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Reposted by Caroline Wright

Luke Pilling @lcpilling.bsky.social · 28d

Post-doc opportunity in Exeter 🌟 studying genetic modifiers of haemochromatosis 🩸

Closing date 30 Oct!

Come and work with a interdisciplinary team of epidemiologists, clinicians, and statistical geneticists, in a beautiful city in the South West of England ❤️

jobs.exeter.ac.uk/hrpr_webrecr...

View of the River Exe running through the Quay in sunny Exeter.

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Reposted by Caroline Wright

Patrick Goymer @patrickgoymer.bsky.social · 12d

As we mourn Jane Goodall, this @nature.com article explores three ways in which she changed science:

1. Altering the way we view both other primates and ourselves
2. Inspiring generations of women scientists
3. Communicating science in a way that engaged the public

www.nature.com/articles/d41...

Jane Goodall’s legacy: three ways she changed science

The primatologist challenged what it meant to be a scientist.

www.nature.com

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Caroline Wright @carolinefwright.bsky.social · Sep 11

Super-simple application of pathogenicity evidence during variant assessment in @deciphergenomics.bsky.social - even for complicated PVS1 in multiexon deletions where the frame is preserved - confirming a likely diagnosis.

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Caroline Wright @carolinefwright.bsky.social · Sep 10

Very cool new feature in @deciphergenomics.bsky.social - direct link from any missense variant to ProtVar @ebi.embl.org. This variant is in the binding site and likely interacts with the ligand, predicted using AlphaFold with AlphaFill!

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Caroline Wright @carolinefwright.bsky.social · May 29

Both translational and fundamental curiosity-driven research are needed to fuel the incredible progress we're seeing in genomic medicine; an important message in this article and and some lovely quotes from @sarahlwynn.bsky.social
www.ft.com/content/25dd...

Curiosity underlies a breakthrough in rare disease

We must recognise and protect the pipelines that lead from research to real-world benefit

www.ft.com

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Caroline Wright @carolinefwright.bsky.social · May 28

Pretty excited about giving Talos a try in the NHS @rdexeter.bsky.social‬. We should definitely be doing regular reanalysis of existing genome-wide sequencing data, just need the right tools!

GenomeSeb @genomeseb.bsky.social · May 26

@zornitza.bsky.social updating on Talos automated reanalysis pipeline #ESHG2025

>250 new diagnosis from 4744 unsolved cases. That’s 5% new extra for <1 variant per case, it’s #scaleable!

Pre-print now out: www.medrxiv.org/content/10.1...

Talos is #portable #opensource: github.com/populationge...

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Caroline Wright @carolinefwright.bsky.social · May 27

So agree with this - Alphafold models are really fantastic for genomics researchers because they make mapping genetic variants so much simpler! But high-resolution experimental protein structures still offer important extra detail and accuracy, particularly for complexes, ligands, PTMs, etc.

Span Lab FAU @spanlabfau.bsky.social · May 25

Great work highlighting how important it is to carry out experimental structure determination instead relying on AlphaFold predictions. #crystallography #structure #biology #chemistry

www.nature.com/articles/s41...

AlphaFold predictions are valuable hypotheses and accelerate but do not replace experimental structure determination - Nature Methods

An analysis of AlphaFold protein structure predictions shows that while in many cases the predictions are highly accurate, there are also many instances where the predicted structures or parts of pred...

www.nature.com

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Caroline Wright @carolinefwright.bsky.social · May 27

Last day of #ESHG25 #ESHG2025, make sure to catch two fantastic back-to-back talks from @hls.exeter.ac.uk @drghawkes.bsky.social describing whole genome association analysis and meta-analysis across >500,000 people (Tuesday 11:15 & 11:30, C32)

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Caroline Wright @carolinefwright.bsky.social · May 26

OK, I'm starting to get #ESHG25 FOMO now! Those of you who are there should check out a poster from our group @hls.exeter.ac.uk investigating penetrance of variants in TSC1 & TSC2, with implications for newborn genome screening.(P15.033.D - pop by for a chat Monday 4-5pm)

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Caroline Wright @carolinefwright.bsky.social · May 26

At #ESHG25, make sure to hear the fantastic @chundru.bsky.social speak about characterizing genome-wide de novo mutations in control populations versus rare disease cases (Monday 11:15, C29), part of the work we're doing in paradigmgenomics.org

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Caroline Wright @carolinefwright.bsky.social · May 25

At #ESHG25, check out today's workshop with @jamesfasham.bsky.social to learn about the amazing @deciphergenomics.bsky.social‬ (Sunday 14:15, W10)

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Reposted by Caroline Wright

Dr Gareth Hawkes @drghawkes.bsky.social · May 23

Got a big showing of talented University of Exeter scientists with talks and posters at ESHG25 in Milan. Come along and find out more! @hls.exeter.ac.uk @exeter.ac.uk #ESHG25 @jamesfasham.bsky.social @jingzhan.bsky.social @ambermluckett.bsky.social @chundru.bsky.social @harrygreentkd.bsky.social

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Reposted by Caroline Wright

Zornitza Stark @zornitza.bsky.social · May 23

🤗 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...

www.medrxiv.org

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Reposted by Caroline Wright

helenvfirth.bsky.social @helenvfirth.bsky.social · May 7

Fascinating insights into embryonic life from a very productive collaboration between DECIPHER and MuzHaniffa and her talented team @mhaniffa.bsky.social

deciphergenomics.bsky.social @deciphergenomics.bsky.social · May 7

Human Developmental Cell Atlas (HDCA) expression data is now displayed. Expression is displayed in 12 sections of a 6-7 post-conception week human embryo, alongside a sagittal view which displays the region of the embryo represented by each section @mhaniffa.bsky.social

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Caroline Wright @carolinefwright.bsky.social · May 1

⬇️ again. I feel the need to re-post this point pretty much every week! Benign variants are not low penetrance.

Nicky Whiffin @nickywhiffin.bsky.social · Mar 3

Key points:
1. Observation in a single case != pathogenic
2. Pre-selected cohorts warrant special care (controls are important!)
3. To make claims about reduced penetrance (as they do in the discussion) we first need evidence of pathogenicity (which there isn’t here)

6/7

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Caroline Wright @carolinefwright.bsky.social · Apr 10

"Remember that it's not only scientists that read your papers" - sage advice from author of a beautiful poem 'Proband', which began life as a response to our DDD NEJM paper, linking genomic science and its patients. www.consilience-journal.com/issue-17-pro...

Proband — Consilience

www.consilience-journal.com

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Reposted by Caroline Wright

Jonathan Roberts @jonroberts.bsky.social · Apr 3

A new post by me where I argue that genetics, both past and present, demonstrates a simple fact. DEI makes our science better.

open.substack.com/pub/jonathan...

Genetics, objectivity and a defence of DEI

Genetics, both past and present, demonstrates a simple fact. DEI makes our science better.

open.substack.com

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Caroline Wright @carolinefwright.bsky.social · Apr 3

Come and work with us - 2 Graduate Research Assistant positions available in genomic medicine, with a particular focus on variant interpretation and data analysis. Part of the Wellcome-funded PARADIGM project, and based in beautiful Exeter UK! jobs.exeter.ac.uk/hrpr_webrecr...

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Reposted by Caroline Wright

Daniel MacArthur @dgmacarthur.bsky.social · Mar 18

This is sad not just for genomics in the US, but across the world: Eric has been an incredibly effective global champion for the power of genomics and the impact of genomic medicine.

Matthew Herper @matthewherper.bsky.social · Mar 18

Eric Green is out as head of National Human Genome Research Institute

www.statnews.com/2025/03/17/t...

Eric Green is out as head of National Human Genome Research Institute

The longtime director of the National Human Genome Research Institute is stepping down, as the larger NIH braces for more changes.

www.statnews.com

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Reposted by Caroline Wright

Randall Munroe @xkcd.com · Mar 17

Lungfish xkcd.com/3064

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Caroline Wright @carolinefwright.bsky.social · Mar 12

Excellent trip to Sheffield for the UK Clinical Genetics Society Conference and National Dysmorphology Meeting. Lots of new ideas, lovely catching up with colleagues, and a bonus weekend walking in the sunny Peak District!

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Caroline Wright @carolinefwright.bsky.social · Mar 10

<blushes>... thanks Jeff, that's very kind 😊

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Caroline Wright @carolinefwright.bsky.social · Feb 28

Some very moving stories in "More than you can imagine: an anthology of rare experiences", compiled by Genetic Alliance UK to mark #RareDiseaseDay 2025, geneticalliance.org.uk/campaigns-an...

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Caroline Wright @carolinefwright.bsky.social · Feb 28

Nice #RareDiseaseDay blog from @mehurles.bsky.social outlining the importance of genetics and genomics in rare disease for discovery, diagnosis and treatment.

Wellcome Sanger Institute @sangerinstitute.bsky.social · Feb 28

Advances in genomic technologies are continuing to pave the way for quicker diagnoses and greater opportunities for therapies.

For #RareDiseaseDay, we caught up with @mehurles.bsky.social to explore how genomics has progressed research and what challenges remain.

ow.ly/By4A50V887a

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Caroline Wright @carolinefwright.bsky.social · Feb 27

Fantastically useful clinically-curated resource of structured monogenic gene-disease associations, including inheritance and disease mechanisms.

EMBL-EBI @ebi.embl.org · Feb 27

Gene2Phenotype (G2P) has launched an updated website with a fresh new look.

Find out more about the new features available 👇

www.ebi.ac.uk/about/news/u...

@gene2phenotype.bsky.social 🖥️🧬

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