Caroline Wright (Exeter) sharing fundamental knowledge
What does the "average" human genome look like?"
>900k 𧬠#UKB / #AllofUs
/ Genome:
1οΈβ£ ~4.4β5.5 million variants
2οΈβ£ 2β3 ClinVar P/LP (mostly AR)
3οΈβ£ ~62β70 de novo variants
4οΈβ£ ~1 in 5 people in top 1% of PRS for β₯1 disease
Exeter genomics out in force at #ESHG2026 in Gothenburg! Multiple talks and posters every day...
Woo!!! @hiwwright.bsky.social bamboozles us with his All of Us mastery!
This is the result of lot of hard work and some brilliance from one of the most talented ECRs Iβve worked with
A very important message which will reduce a lot of noise in aggregate associations, and improve interpretability
What genetic change to Indian wheat led to superior baking in a tandoor?
A naan sense mutation
*A new pre-print on increasing gene expression!* π§¬π
doi.org/10.64898/202...
Our new study defines a distinct #neurogenetic condition arising from recurrent structural variants at 16p13.3 palindrome.
Individuals show progressive ataxia, cognitive decline, and a characteristic MRI pattern with caudate & cerebellar atrophy.
#Genomics #RareDisease π§΅1/3
Early Christmas present! Thank you Father Quistmas!π
It was a privilege to be part of this important international effort. How should we determine the value of genomics in healthcare?
Domain-wide Mapping of Peer-reviewed Literature for Genetic Developmental Disorders using Machine Learning and Gene2Phenotype https://www.medrxiv.org/content/10.1101/2025.11.24.25340871v1