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Reposted

Caroline Wright @carolinefwright.bsky.social · 27d

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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helenvfirth.bsky.social @helenvfirth.bsky.social · 28d

Really cool addition to DECIPHER! Give it a try and be amazed what you can see and discover!

deciphergenomics.bsky.social @deciphergenomics.bsky.social · 28d

Links to ProtVar are now available from the protein browser which provide functional and structural annotations for missense variants @ebi.embl.org

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · 28d

ClinGen Variant Curation Expert Panel Recommendations are now displayed more clearly on gene pages and in the pathogenicity evidence interface, especially for genes with recommendations for more than one disease @theacmg.bsky.social

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helenvfirth.bsky.social @helenvfirth.bsky.social · 28d

Such a useful feature to have this customised PubMed search embedded in DECIPHER. Simple copy the PMID and paste it into the citation tab to get access to information relevant to your variant of interest.

deciphergenomics.bsky.social @deciphergenomics.bsky.social · 28d

The bespoke PubMed search on gene pages is now displayed in bold. This link opens a browser tab with a PubMed search displaying publications that include the gene of interest.

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Caroline Wright @carolinefwright.bsky.social · 28d

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 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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Mallory Freeberg @malloryfreeberg.bsky.social · May 7

Embryonic gene expression. Cancer case frequencies. Ear disorders. Oh my! So many interesting research outputs packed into today's DECIPHER release. Head to www.deciphergenomics.org to check them out! 🧬💻

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · Apr 14

Submit your abstract for the Curating the Clinical Genome conference - deadline is tomorrow.

Wellcome Connecting Science Learning and Training @eventswcs.bsky.social · Apr 2

The abstract deadline for Curating the Clinical Genome is approaching! #CCG2025

Submit by 15 April ⏰

Present your research to leaders working in the clinical #genomics and #biodata communities, and build your professional profile on a global stage.

📅 11 - 13 June
📎Find out more: bit.ly/4gt4EB6

Wellcome Connecting Science
Curating the Clinical Genome
Conference dates: 11-13 June 2025
Location: Wellcome Genome Campus, UK and online
Abstract deadline: 15 April
Submit now

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

Cancer case frequency data compiled by the National Disease Registration Service from diagnostic laboratories in England is now displayed on the protein browser. Data is available for ~4,500 variants in 13 cancer susceptibility genes including BRCA1, BRCA2, MSH2, PTEN and SMAD4.

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helenvfirth.bsky.social @helenvfirth.bsky.social · Apr 10

Such a thoughtful and beautiful poem bearing an important message for all working in human genetics.

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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deciphergenomics.bsky.social @deciphergenomics.bsky.social · Mar 24

Can you spare 5 minutes to help shape the future development of DECIPHER?
Your views are extremely important to us.

Please access our user survey here: docs.google.com/forms/d/e/1F...

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · Mar 21

The display of @gene2phenotype.bsky.social (G2P) data has been updated to reflect the new data structure of curated Locus-Genotype-Mechanism-Disease-Evidence threads which allow for precise definition of the clinical phenotype and molecular basis of a given condition @ebi.embl.org

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · Mar 21

DECIPHER version 11.30 has been released. See the new features at www.deciphergenomics.org #variantinterpretation

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Jeffrey Barrett @jeffbarrett.eu · Mar 8

Today on #internationaleomensday I’d like to salute one of my all-time favourite collaborators: Prof @carolinefwright.bsky.social. Caroline is a smart and thoughtful scientist, unflinching advocate for her beliefs, and always fun to hang out with. She is also an annoyingly talented musician.

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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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deciphergenomics.bsky.social @deciphergenomics.bsky.social · Feb 28

DECIPHER is proud to have made an impact on rare disease research over the last 20 years; more than 4000 publications have cited the platform.

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G2P @gene2phenotype.bsky.social · Feb 27

We have launched an updated Gene2Phenotype website with a fresh new look. We now support more detailed disease mechanism information in our expert-curated gene-disease models.
Available at www.ebi.ac.uk/gene2phenotype.

Gene2Phenotype

www.ebi.ac.uk

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Reposted

Nicky Whiffin @nickywhiffin.bsky.social · Feb 5

Wonderful few days discussing clinical genomics and variant interpretation on the Genome campus. Such a lovely place to be in the sunshine 🌳☀️🧬

Large metallic ball on a large paved area with building behind and a blue sky.

A garden and a sculpture in front of buildings and a blue sky.

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rebeccafirthy.bsky.social @rebeccafirthy.bsky.social · Jan 28

My dad’s first novel, Kind & Sensible, is out now, and it’s made me consider end of life care and the difficulties of decision making in todays society in a totally new way. I hope you read it: amzn.eu/d/5JCwfTx

Kind & Sensible

Kind & Sensible eBook : Firth, Dr John: Amazon.co.uk: Kindle Store

amzn.eu

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Caroline Wright @carolinefwright.bsky.social · Jan 18

Looking forward to some interesting discussions about newborn genome screening at this @cpmoxford.bsky.social event next month!

Centre for Personalised Medicine @cpmoxford.bsky.social · Jan 17

The opportunities and questions raised by screening using genomes as opposed to more targeted options.
We're going to explore potential benefits of research with genomic data, and complexities of asking consent for genomic data collection from healthy babies. (Chair: @carolinefwright.bsky.social)

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · Jan 8

Cancer case frequency data compiled by the National Disease Registration Service from diagnostic laboratories in England is now displayed. Nearly 4,500 variants in 13 cancer susceptibility genes including BRCA1, BRCA2, MSH2, PTEN and SMAD4.

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Reposted

deciphergenomics.bsky.social @deciphergenomics.bsky.social · Jan 8

Protein predictive scores which predict the likelihood that the protein is associated with a dominant-negative, gain-of-function or loss-of-function mechanism are displayed. Curated literature support for a molecular disease mechanism is also shown jmarshlab.bsky.social @mbadonyi.bsky.social

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Centre for Personalised Medicine @cpmoxford.bsky.social · Jan 6

#january Day 6

As some of us take down decorations today, take a look at this EJHG article from @rachel-horton.bsky.social, Leah Boyle, @drsusieweller.bsky.social & @alucassen.bsky.social about how you can still find the sparkle in pictures of #DNA!:

Glowing gels and pipettes aplenty: how do commercial stock image banks portray genetic tests? - European Journal of Human Genetics

European Journal of Human Genetics - Glowing gels and pipettes aplenty: how do commercial stock image banks portray genetic tests?

buff.ly

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