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
Formerly at Sanger institute working on recessive developmental disorders in DDD
Reposted by Kartik Chundru
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
Individuals show progressive ataxia, cognitive decline, and a characteristic MRI pattern with caudate & cerebellar atrophy.
#Genomics #RareDisease 🧵1/3
December 8, 2025 at 8:42 AM
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
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!🎅
We 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.
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Intro to Bedder – The Quinlan Lab
quinlanlab.org
December 2, 2025 at 1:31 PM
Early Christmas present! Thank you Father Quistmas!🎅
Reposted by Kartik Chundru
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
November 25, 2025 at 8:40 PM
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
Reposted by Kartik Chundru
It was a privilege to be part of this important international effort. How should we determine the value of genomics in healthcare?
www.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
🔥🔥🔥 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
Determining the value of genomics in healthcare - Nature Medicine
Assessing the value of genomics is key to informing evidence-based policies; this Review outlines how current approaches to health technology assessment, implementation and data management can be adap...
www.nature.com
November 27, 2025 at 7:12 PM
It was a privilege to be part of this important international effort. How should we determine the value of genomics in healthcare?
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
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
Interested 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
November 17, 2025 at 2:02 PM
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
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
Reposted by Kartik Chundru
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.
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”
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...
www.biorxiv.org
November 8, 2025 at 3:35 PM
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.
Reposted by Kartik Chundru
hell yes! (another quote for you kartik)
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”
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...
www.biorxiv.org
November 10, 2025 at 9:15 AM
hell yes! (another quote for you kartik)
Reposted by Kartik Chundru
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
We’ll be providing our filtered AoU WGS plink pgens for all registered users: watch this space
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”
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...
www.biorxiv.org
November 10, 2025 at 1:10 PM
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
We’ll be providing our filtered AoU WGS plink pgens for all registered users: watch this space
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”
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...
www.biorxiv.org
November 8, 2025 at 9:31 AM
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”
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”
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
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
Now 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...
www.nature.com/articles/s42...
Common genetic variants modify disease risk and clinical presentation in monogenic diabetes - Nature Metabolism
In clinical and population-based cohorts, a strong contribution of polygenic risk for type 2 diabetes (T2D) significantly modifies the onset and phenotypic variability of maturity-onset diabetes of th...
www.nature.com
September 9, 2025 at 6:50 PM
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
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
Reposted by Kartik Chundru
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
Polygenic Background Contributes to GCK-MODY Clinical Presentation and Glycaemic Variability https://www.medrxiv.org/content/10.1101/2025.08.04.25332935v1
August 11, 2025 at 4:57 PM
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
Reposted by Kartik Chundru
Super excited to share our new review paper - The role of untranslated region variants in Mendelian disease!
www.nature.com/articles/s41...
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
www.nature.com
July 4, 2025 at 8:08 AM
Super excited to share our new review paper - The role of untranslated region variants in Mendelian disease!
www.nature.com/articles/s41...
www.nature.com/articles/s41...
Reposted by Kartik Chundru
⌛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
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
June 27, 2025 at 2:28 PM
⌛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
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
Reposted by Kartik Chundru
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
June 25, 2025 at 2:29 PM
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
Reposted by Kartik Chundru
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!
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
June 4, 2025 at 12:36 PM
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!
Reposted by Kartik Chundru
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)
May 27, 2025 at 6:23 AM
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)
Reposted by Kartik Chundru
Come along today and see me and Harry begin to tackle the exponentially increasing population scale WGS data! #ESHG2025 #ESHG25
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)
May 27, 2025 at 7:51 AM
Reposted by Kartik Chundru
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
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
May 26, 2025 at 8:09 AM
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
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
Reposted by Kartik Chundru
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
May 26, 2025 at 6:37 AM
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
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
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
May 26, 2025 at 6:11 AM
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
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
Reposted by Kartik Chundru
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
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
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
May 23, 2025 at 1:07 PM
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
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
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
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
May 23, 2025 at 12:21 PM
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
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
Hopefully it goes better than my start, I dropped my laptop bag first thing this morning 😅 luckily no damage
May 23, 2025 at 10:15 AM
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
Hopefully it goes better than my start, I dropped my laptop bag first thing this morning 😅 luckily no damage
Reposted by Kartik Chundru
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
May 7, 2025 at 1:29 PM
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
Reposted by Kartik Chundru
It's finally out people ✅🗞️! Check out the final version of our work exploring factors influencing the germline mutation rate and spectra on ~10,000 WGS family trios 🧬👨👩👦!
www.nature.com/articles/s41...
www.nature.com/articles/s41...
The impact of ancestral, genetic, and environmental influences on germline de novo mutation rates and spectra - Nature Communications
Here the authors analyze de novo mutations in >10,000 parent-offspring trios and find that ancestry and smoking independently associate with mutation rate, but that common genetic variants likely c...
www.nature.com
May 16, 2025 at 5:37 PM
It's finally out people ✅🗞️! Check out the final version of our work exploring factors influencing the germline mutation rate and spectra on ~10,000 WGS family trios 🧬👨👩👦!
www.nature.com/articles/s41...
www.nature.com/articles/s41...