Postdoc at University of Exeter 🇮🇪🇮🇳🇬🇧 Statistical/Computational analyses using any NGS-based data
Formerly at Sanger institute working on recessive developmental disorders in DDD
Kartik Chundru
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Whoop! Very proud to see how far Mwenda has come in such a short space of time 🤩
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 I’ve worked with
A very important message which will reduce a lot of noise in aggregate associations, and improve interpretability
Early Christmas present! Thank you Father Quistmas!🎅
Exeter genomics out in force at #ESHG2026 in Gothenburg! Multiple talks and posters every day...
What genetic change to Indian wheat led to superior baking in a tandoor?
A naan sense mutation
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
Caroline Wright (Exeter) sharing fundamental knowledge
What does the "average" human genome look like?"
>900k 🧬 #UKB / #AllofUs
/ Genome:
1️⃣ ~4.4–5.5 million variants
2️⃣ 2–3 ClinVar P/LP (mostly AR)
3️⃣ ~62–70 de novo variants
4️⃣ ~1 in 5 people in top 1% of PRS for ≥1 disease
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 🧵1/3
*A new pre-print on increasing gene expression!* 🧬📈
doi.org/10.64898/202...
Kartik Chundru
Kartik Chundru
Kartik Chundru
Rare genetic disorders collectively impact over 300 million people worldwide, yet around 95% have no specific treatments. For the many rare disorders caused by haploinsufficiency, effective therapies ...
