Caroline Wright
@carolinefwright.bsky.social
Academic research scientist in human genetics and genomic medicine; pianist & composer; hiker & outdoors enthusiast.
Reposted by Caroline Wright
New paper on everyone’s favourite topic, QC!
We show why you should do genotype-level QC on your WGS data
www.biorxiv.org/content/10.1...
Very real quotes about this paper -
“The most exciting, mind-blowing paper of the year!”
“On a par with Fisher 1918”
“I read it every night. Just so beautiful”
We show why you should do genotype-level QC on your WGS data
www.biorxiv.org/content/10.1...
Very real quotes about this paper -
“The most exciting, mind-blowing paper of the year!”
“On a par with Fisher 1918”
“I read it every night. Just so beautiful”
Genotype-level quality control substantially reduces error rates in population-scale whole-genome sequencing
Population-scale whole-genome sequencing data will contain many individual-level genotype errors, even after allele-level quality control (QC). We establish the need for genotype-level QC using UK Bio...
www.biorxiv.org
November 8, 2025 at 9:31 AM
New paper on everyone’s favourite topic, QC!
We show why you should do genotype-level QC on your WGS data
www.biorxiv.org/content/10.1...
Very real quotes about this paper -
“The most exciting, mind-blowing paper of the year!”
“On a par with Fisher 1918”
“I read it every night. Just so beautiful”
We show why you should do genotype-level QC on your WGS data
www.biorxiv.org/content/10.1...
Very real quotes about this paper -
“The most exciting, mind-blowing paper of the year!”
“On a par with Fisher 1918”
“I read it every night. Just so beautiful”
Excellent autumnal away-day by the seaside with the Exeter genomics teams, organised by @drghawkes.bsky.social, discussing improvements to our whole genome sequence annotation and burden-testing pipelines - lots more exciting science to come! @exeter.ac.uk @nihrexeterbrc.bsky.social
October 29, 2025 at 11:17 AM
Excellent autumnal away-day by the seaside with the Exeter genomics teams, organised by @drghawkes.bsky.social, discussing improvements to our whole genome sequence annotation and burden-testing pipelines - lots more exciting science to come! @exeter.ac.uk @nihrexeterbrc.bsky.social
Reposted by Caroline Wright
Alistair Pagnamenta: rlReduced OI penetrance in @uk_biobank, implications for genomic newborn screening at #ICoNS25.
🦴 majority with P/LP variants have do not have multiple fractures
Impact on protein supported by proteomic data
👀 Preprint out today
www.medrxiv.org/content/10.1...
🦴 majority with P/LP variants have do not have multiple fractures
Impact on protein supported by proteomic data
👀 Preprint out today
www.medrxiv.org/content/10.1...
October 24, 2025 at 10:46 AM
Alistair Pagnamenta: rlReduced OI penetrance in @uk_biobank, implications for genomic newborn screening at #ICoNS25.
🦴 majority with P/LP variants have do not have multiple fractures
Impact on protein supported by proteomic data
👀 Preprint out today
www.medrxiv.org/content/10.1...
🦴 majority with P/LP variants have do not have multiple fractures
Impact on protein supported by proteomic data
👀 Preprint out today
www.medrxiv.org/content/10.1...
New pre-print on population penetrance - the first of a set exploring specific gene-disease pairs under consideration for genomic newborn screening. Spoiler alert: careful curation is essential, but penetrance is lower in population than clinical cohorts. www.medrxiv.org/content/10.1...
Reduced penetrance of COL1A1/2 pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohort
Osteogenesis imperfecta (OI) is under consideration for inclusion in several genomic newborn screening initiatives, but its penetrance in clinically-unselected populations is currently unknown. It is ...
www.medrxiv.org
October 24, 2025 at 12:45 PM
New pre-print on population penetrance - the first of a set exploring specific gene-disease pairs under consideration for genomic newborn screening. Spoiler alert: careful curation is essential, but penetrance is lower in population than clinical cohorts. www.medrxiv.org/content/10.1...
Reposted by Caroline Wright
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...
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...
September 16, 2025 at 3:11 PM
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...
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...
Reposted by Caroline Wright
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...
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
October 2, 2025 at 11:53 AM
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...
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...
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.
September 11, 2025 at 8:25 AM
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.
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!
September 10, 2025 at 9:54 AM
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!
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...
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
May 29, 2025 at 8:44 AM
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...
www.ft.com/content/25dd...
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!
@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...
>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...
May 28, 2025 at 7:37 AM
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!
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.
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...
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
May 27, 2025 at 3:55 PM
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.
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)
May 27, 2025 at 6:23 AM
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)
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)
May 26, 2025 at 10:18 AM
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)
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
May 26, 2025 at 6:37 AM
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
At #ESHG25, check out today's workshop with @jamesfasham.bsky.social to learn about the amazing @deciphergenomics.bsky.social (Sunday 14:15, W10)
May 25, 2025 at 6:27 AM
At #ESHG25, check out today's workshop with @jamesfasham.bsky.social to learn about the amazing @deciphergenomics.bsky.social (Sunday 14:15, W10)
Reposted by Caroline Wright
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
May 23, 2025 at 12:08 PM
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
Reposted by Caroline Wright
🤗 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!
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
May 23, 2025 at 6:04 AM
🤗 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!
github.com/populationge...
A superb collaboration with @dgmacarthur.bsky.social @cassimons.bsky.social @heidirehm.bsky.social @ksamocha.bsky.social and many more!
Reposted by Caroline Wright
Fascinating insights into embryonic life from a very productive collaboration between DECIPHER and MuzHaniffa and her talented team @mhaniffa.bsky.social
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
May 7, 2025 at 5:48 PM
Fascinating insights into embryonic life from a very productive collaboration between DECIPHER and MuzHaniffa and her talented team @mhaniffa.bsky.social
⬇️ again. I feel the need to re-post this point pretty much every week! Benign variants are not low penetrance.
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
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
May 1, 2025 at 8:37 AM
⬇️ again. I feel the need to re-post this point pretty much every week! Benign variants are not low penetrance.
"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
April 10, 2025 at 12:30 PM
"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...
Reposted by Caroline Wright
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...
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
April 3, 2025 at 9:26 AM
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...
open.substack.com/pub/jonathan...
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...
April 3, 2025 at 12:24 PM
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...
Reposted by Caroline Wright
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.
Eric Green is out as head of National Human Genome Research Institute
www.statnews.com/2025/03/17/t...
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
March 18, 2025 at 8:22 PM
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.
Reposted by Caroline Wright
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!
March 12, 2025 at 2:52 PM
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!