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carolinefwright.bsky.social
Academic research scientist in human genetics and genomic medicine; pianist & composer; hiker & outdoors enthusiast.
13 posts 759 followers 107 following
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Posts 14 Comments 4

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

submitted 10 hours ago • 0 comments

Exciting times for genomics research @exeter.ac.uk @nihrexeterbrc.bsky.social! 🧬 New preprint from the team: using large-scale WGS from @ukbiobank.bsky.social and All of Us shows convergence between rare and common genetic associations, with implications for genetic architecture of complex traits.

submitted 18 hours ago • 0 comments

Fascinating day @cpmoxford.bsky.social yesterday discussing genome sequencing in newborn screening. Lots of complexities, loads of new ideas, and lovely to see so many colleagues! Thanks @alucassen.bsky.social @rachel-horton.bsky.social and all the organisers.

submitted 1 day ago • 0 comments

My favourite figure from this paper: unlike coding variants, rare non-coding variants are almost equally likely to increase or decrease circulating protein levels. Thanks to @ukbiobank.bsky.social for genomic and proteomic data!

submitted 3 days ago • 1 comment

Fabulous few days at the 9th biannual course on Clinical Genomics: Fundamentals of Variant Interpretation 🧬 #ClinicalGen25 @eventswcs.bsky.social. Some great discussions and plenty of food for thought!

submitted 22 days ago • 0 comments

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

submitted 40 days ago • 2 comments

I'm delighted to announce that the Pharma Proteomics Project will commence full-scale proteomic profiling of the UK Biobank in 2025. We have selected the Olink Proteomics Explore HT platform and Ultima Genomics UG 100 sequencers for this unprecedented study. www.ukbiobank.ac.uk/learn-more-a...

submitted 48 days ago • 1 comment

Registration is now open for our Curating the Clinical Genome Conference! #CCG2025 🗓️Dates: 11 - 13 June 2025 If you are interested in shaping best practices for the clinical use of #GenomicsData, then this is the conference for you! 🧬 🗣️ Keynote: @heidirehm.bsky.social 📎Info: bit.ly/4gt4EB6

submitted 49 days ago • 0 comments

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

submitted 50 days ago • 0 comments

Trump and Musk are in the White House. They both employ the language of genetic determinism. I've written about this what means for genetics and how we can respond www.theguardian.com/commentisfre...

submitted 59 days ago • 5 comments

jobs.exeter.ac.uk/hrpr_webrecr... Interested in data management? Want a permanent position working in beautiful Devon and work collaboratively to support the work of lots of genomics team? Apply!!

submitted 73 days ago • 0 comments

New work on penetrance of incidentally identified pathogenic RET variants, led by Kash Patel. Key findings: (1) Moderate-risk mutations are predominant in this context; (2) the risk of thyroid cancer is lower for population versus clinical ascertainment. www.medrxiv.org/content/10.1...

submitted 84 days ago • 0 comments

Finally, the DDD outcomes paper is fully published - it took many people and many years, but we definitely had an impact on patient care! Genetic diagnoses changed management for >28% of patients, and connected families with support groups, key resources, and reproductive counseling bit.ly/3Zy0Dpq

submitted 87 days ago • 0 comments

Want to join our brilliant genomics teams at the @uniofexeter.bsky.social? Deadline 11th January for an array of exciting roles! Find out more here - medicine.exeter.ac.uk/clinical-bio....

submitted 416 days ago • 0 comments