Kartik Chundru
@chundru.bsky.social
Postdoc at University of Exeter 🇮🇪🇮🇳🇬🇧 Statistical/Computational analyses using any NGS-based data Formerly at Sanger institute working on recessive developmental disorders in DDD
Whoop! Very proud to see how far Mwenda has come in such a short space of time 🤩
James Fasham@jamesfasham.bsky.social · 2mo ago🧬 Missense ≠ not splice. Mwenda Rintari (Exeter) show that ~2–3% of missense variants may disrupt splicing Analysis of 8.3M variants found protein effects approaching loss-of-function variants & several candidate diagnoses in unsolved patients. #ESHG2026
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
Harry Wright@hiwwright.bsky.social · 6mo agoExcited to share my first preprint on federated conditional analysis of rare single variant and aggregate association tests across six genetically-inferred ancestry groups in All of Us and UK Biobank doi.org/10.64898/202...
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!* 🧬📈 doi.org/10.64898/202...
Modulating splicing in five prime untranslated regions to treat rare haploinsufficient disease
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 ...
doi.org
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
Early Christmas present! Thank you Father Quistmas!🎅
Aaron Quinlan (he/him)@aaronquinlan.bsky.social · 8mo agoWe are thrilled to announce the first official release (v0.1.8) of #𝗯𝗲𝗱𝗱𝗲𝗿, the successor to one of our flagship tool, #𝗯𝗲𝗱𝘁𝗼𝗼𝗹𝘀! Based on ideas we conceived of long ago (!), this was achieved thanks to the dedication of Brent Pedersen. 1/n
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
It was a privilege to be part of this important international effort. How should we determine the value of genomics in healthcare?
Zornitza Stark@zornitza.bsky.social · 8mo agowww.nature.com/articles/s41... 🔥🔥🔥 Is genomics value for money??? 🧬💰 👉 How do we define it? 👉 Measure it? 👉 And deliver it? rdcu.be/eR243 @iliasgoranitis.bsky.social @stephaniebest.bsky.social @hadleyssmith.bsky.social @rich-genomics.bsky.social @jbuchanan-ox.bsky.social @rdexeter.bsky.social
Please forward this to any you know who could be interested! The incredible @drghawkes.bsky.social will be leading a course on analysis of genome sequence data, functional annotation of the genome, and using the very, very exciting AlphaGenome tool
Dr Gareth Hawkes@drghawkes.bsky.social · 9mo agoInterested in whole genomes, AI and functional validation? Sign up to hear more about our summer school in the sunny southwest U.K. @exeter.ac.uk in Sept 2026, in partnership with the U.K. Functional Genomics Initiative @uk-fgx.bsky.social and Google Deepmind @nihrexeterbrc.bsky.social
Rarely in the entire history of science, has QC been a topic of such passion, importance and impact. If only the French and Americans had adopted such rigor when they messed up the design of that multi billion $ telescope because one was using the metric system, the other the imperial system.
Kartik Chundru@chundru.bsky.social · 9mo agoNew 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”
hell yes! (another quote for you kartik)
Kartik Chundru@chundru.bsky.social · 9mo agoNew 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”
Genomic superstar @chundru.bsky.social taking on fake-news genotypes in >900k individuals. He shows allele-level filtering is rarely suffifient, and makes the brave choice to properly tackle chrX! We’ll be providing our filtered AoU WGS plink pgens for all registered users: watch this space
Kartik Chundru@chundru.bsky.social · 9mo agoNew 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”
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”
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...
biorxiv.org
Really cool work from @jacquesml.bsky.social and @kash-a-patel.bsky.social 🥳 24% common variant heritability for a rare disease (MODY)! This very elegantly shows the overlap between MODY and T2D, and hints at some potential MODY phenocopies
Jacques Murray Leech@jacquesml.bsky.social · 11mo agoNow out in @natmetabolism.nature.com! Excited to share our work showing how common genetic changes shape how diabetes presents in MODY (Maturity-Onset Diabetes of the Young). Our findings highlight the growing overlap between monogenic and polygenic forms of diabetes. www.nature.com/articles/s42...
New preprint out now! We show polygenic background shapes GCK-MODY clinical presentation. In >1,000 cases, higher polygenic risk increased the chance of exceeding diagnostic diabetes thresholds, highlighting how monogenic & polygenic factors jointly shape disease. #Genetics
medRxivpreprint@medrxivpreprint.bsky.social · 12mo agoPolygenic Background Contributes to GCK-MODY Clinical Presentation and Glycaemic Variability https://www.medrxiv.org/content/10.1101/2025.08.04.25332935v1
Super excited to share our new review paper - The role of untranslated region variants in Mendelian disease! www.nature.com/articles/s41...
The role of untranslated region variants in Mendelian disease: a review - European Journal of Human Genetics
European Journal of Human Genetics - The role of untranslated region variants in Mendelian disease: a review
nature.com
⌛Just over a week left! Submit your abstract for the Cardiac Precision Medicine in the 21st Century Conference 🫀 📅 Oct 29–31, 2025 | Toronto Showcase your research + compete for Best Abstract Award! 🔗 cardiacprecisionmedicine.com #CardiacPrecision #Genomics #callforabstracts
Excited to launch our AlphaGenome API goo.gle/3ZPUeFX along with the preprint goo.gle/45AkUyc describing and evaluating our latest DNA sequence model powering the API. Looking forward to seeing how scientists use it! @googledeepmind
Excited to share the preprint of our paper (my first paper!) looking at limited evidence MODY genes. We use rare variant burden testing and one of the largest MODY cohorts to evaluate the pathogenicity of these genes. This evidence can help inform clinical guidelines in MODY genetic testing!
medRxivpreprint@medrxivpreprint.bsky.social · last yr.NEUROD1 and PDX1 are low penetrance causes of MODY while rare variants in APPL1 and WFS1 are not associated with MODY https://www.medrxiv.org/content/10.1101/2025.05.07.25327066v1
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)
Come along today and see me and Harry begin to tackle the exponentially increasing population scale WGS data! #ESHG2025 #ESHG25
Caroline Wright@carolinefwright.bsky.social · last yr.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)
The team have all done their job beautifully #proudPI - now it is my turn. Join us in the late breaking session to hear about collaborative work with @gregfindlay.bsky.social on saturation genome editing of RNU4-2 (at 11:30). You will also get to hear the awesome @chundru.bsky.social! #eshg2025
Nicky Whiffin@nickywhiffin.bsky.social · last yr.It's #eshg2025 #eshg25 time 🥳 Here is where you can catch the team over the next few days. Please go and say hi!
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
I will be talking today in Space 3. The session starts at 10:30, my talk will be at 11:15 Come join if you are interested in de novo mutations, non-coding genome, rare disease, or just up for seeing @nickywhiffin.bsky.social talk about RNU4-2 saturation mutagenesis after me 😂 #ESHG2025
Dr Gareth Hawkes@drghawkes.bsky.social · last yr.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
Thanks Gareth! I'm speaking at Workshops W10 and W19. Also please do see Leigh's poster that has some our data on low penetrance of TS in biobank - keen for feedback! #ESHG2025
Dr Gareth Hawkes@drghawkes.bsky.social · last yr.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
Do come see some of these talks and posters! These are all incredible scientists (and @drghawkes.bsky.social), I can’t recommend them and their research enough #ESHG2025
Dr Gareth Hawkes@drghawkes.bsky.social · last yr.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
I’m really looking forward to #ESHG2025! Hopefully it goes better than my start, I dropped my laptop bag first thing this morning 😅 luckily no damage