Kartik Chundru
@kartikchundru
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Postdoc at @UniofExeter. Former postdoc @sangerinstitute. Working on the integration of 'omics data into burden testing frameworks. @chundru.bsky.social
Joined May 2020
I'm very excited to have our work on recessive developmental disorders published at @NatureGenet! See here for the tweetorial (. There were some exciting updates during the reviews which I'll highlight here... (1/n)
Our work describing the recessive coding contribution to developmental disorders across genetic ancestry groups is on medRxiv! We combined research (Deciphering Developmental Disorders) and industry (@GeneDx) data to look at the effect of recessive variants in 29,745 trios! (1/)
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RT @qinqin_huang: Excited to share our latest research, now published in @Nature 🎉 Huge thanks to my amazing supervisor @hilsomartin and co…
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Super excited for the two superstars @EmilieWigdor and @qinqin_huang 🤩 Really interesting results - makes me question if we should be using something like the liability threshold model for monogenic disorders?
📣Big news! Our tag-team effort on common variants in rare neurodevelopmental conditions is now out in @Nature! 📣 Co-first authoring with the brilliant @qinqin_huang🌟—proof that teamwork does make the dream work. 💪
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RT @rbamford5: This is just the cherry on top of a fantastic week at #ASHG24! I have enjoyed the presentations, posters, exhibitors, worksh…
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RT @PsyEpigenetics: HUGE congratulations to @rbamford5 who received a ASHG Research Excellence Trainee award at #ASHG24 #ASHG2024. What an…
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RT @GeneticsSociety: @Penn @Stanford @UniofOxford ASHG Trainee Research Excellence Post-Doctoral Winners also accepted their awards during…
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RT @carolinefwright: Important ongoing work curating G2P gene-disease relationships with mechanism and mode of inheritance, @HelenVFirth @d…
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RT @GarethHawkes1: If you’re at #ASHG2024 and interested in the interplay of complex traits and whole genome sequences, come along to new r…
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RT @rbamford5: I’m thrilled to announce I am presenting at #ASHG24! I am in Session 83 "Splice Splice Baby" in Room 505 at 1.15 pm on Frida…
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RT @MDC_Neville: Excited to share our new preprint in which we address: (1) Accurate sequencing of sperm at scale (2) Positive selection of…
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RT @sophiechick23: I’m very excited to share our preprint on rare variant gene discovery in schizophrenia, now on medRxiv:
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RT @DrABlakes: There's more in the preprint! You can find it at Regional constraint scores for MANE transcripts…
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RT @DrABlakes: I am delighted to share our work on regional nonsense constraint in human protein coding genes! Now on @medRxiv: https://t…
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RT @carolinefwright: Amazing coverage of DDD study on BBC News & BBC Inside Health, thanks @JamesTGallagher. Genetic diagnosis changed mana…
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RT @ExeterMed: Jaydi’s bone marrow transplant may have saved her life. She’s among thousands to benefit from a genetic study which diagnose…
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RT @carolinefwright: Thank you to the many clinicians, scientists, patients and families involved in the DDD study, @sangerinstitute @Helen…
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RT @ewanbirney: So @JeremyFarrar asked for an "explainer thread" on Noble Prizes in Chemistry around AlphaFold and Protein design, so here…
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RT @GarethHawkes1: Great to have this finally out. 1) Thanks to the reviewers for helping us make our message as clear as possible. The non…
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RT @mnweedon: Non-coding aggregate testing from whole genome sequencing in 333,000 people identifies regulatory regions with substantial ef…
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Something to think about when doing any phenotypic clustering, most applications will not want individuals with these antagonistic phenotypes to be clustered together
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