Ismail Moghul

Proud to share our first TRACERx cancer study integrating epigenomics + genomics in NSCLC as co-drivers of tumor evolution. Led by not me but by the wonderful @NnennayaKanu, @F_gimenoval, @ccastignani6, @VanLooLab

No driver mutations could be identified in 181 tumors. The authors do not know why. Perhaps, it's an algorithmic failure. Perhaps, it reflects non genetic contributions to carcinogenesis. What do you think ?

We've been developing a small standalone tool for viewing & calculating frequency from modification tags in BAM files. This call is for brave users to test. github.com/warp9seq/minim… written by @sunethsam in C, based on mod tag parsing we did for realfreq doi.org/10.1093/bioinf…

1⃣A comprehensive assessment of organ-specific proteomic aging clocks In an analysis of UK Biobank proteomic data, this study tested at scale the previously described organ-specific proteomic aging clocks. People with 8+ aged organs (>1.5SD for the respective clock) had a massive 8.3 times higher risk of mortality over a 17-year follow-up! 🔗nature.com/articles/s4159…

3⃣An AI multi-agent for bioinformatics PromptBio promises to offer a comprehensive AI pipeline for bioinformatic data analyses including standardized omics pipelines. Interested to see how successful these efforts to automate big data analyses are going to be. 🔗biorxiv.org/content/10.110… 🧑‍💻promptbio.ai/download.html

5⃣Foundation Models of Behavioral Data from Apple Wearables Using data from 160,000 participants in the Apple Heart and Movement Study, this manuscript describes the development of foundation models for the analyses of 27 behavioral variables collected over 2.5B hours of wearable data with the Apple Watch and iPhone. The prediction for some disease traits is better than I would expect. 🔗arxiv.org/abs/2507.00191…

@hyhieu226 lmaaooo, need more of this in ML papers. I loved the writing style of yolov3, intro was hilarious also the graph literally just goes off the y axis and they just leave it to flex 😂

DeepMind just dropped a 106-page paper unveiling AlphaGenome. This single model could completely redefine how we discover disease-causing mutations and drug targets. This is massive. 🧵

A.I. is improving the accuracy of medical diagnoses. Today for inherited retinal diseases [IRD] (Eye2Gene vs retinal experts) nature.com/articles/s4225…

Make your Mac think faster 🧠🧠 Tomorrow I'll show you how to cancel your copilot subscription.

Apple released a hearing aids feature for the AirPods Pro a while ago. I bought a pair for grandma, but then realized that the feature was geoblocked in India So we at @_lagrangepoint decided to unblock it. It ended up involving a leaky microwave and building a Faraday cage:

@elfridedebaere @Eye2Gene @UCLeye @GeneticsSociety Thank you @elfridedebaere ! It certainly looked like a great session, I am sure @Ismail_Moghul enjoyed it!

Excellent talk from @shahida_moosa highlighting the need for a global reference for phenotype variability in rare disease diagnosis. Featured Symposium (session 35) on AI to improve clinical diagnoses in Four Seasons Ballroom 2&3 #ASHG24 #AI #rarediseases

@Eye2Gene for next generation phenotyping of inherited retinal diseases using AI was highlighted by Ismail Moghul @UCLeye during the great Featured Symposium on Advanced in AI (session 35). #ASHG24 @GeneticsSociety #AI @npontikos

At the height of One Million Checkboxes's popularity I thought I'd been hacked. A few hours later I was tearing up, extraordinarily proud of some brilliant teens. A thread about my favorite story from running OMCB....

Delighted to report that our paper 'Expert CONsensus on Visual Evaluation in Retinal disease manaGEment: the CONVERGE study' is now published in the British Journal of Ophthalmology. bjo.bmj.com/content/early/…

Pegcetacoplan associated with slower growth of photoreceptor degeneration (PRD), RPE-loss, PRD in isolation, and RPE and Outer Retinal Atrophy. Our analysis of automatically-segmented quantitative OCT biomarkers out in @JAMAOphth based on OAKS & DERBY @ApellisPharma data.

Very excited to see @niharb image on the front cover of @PLOSGenetics this month. Amazing work Nihar! journals.plos.org/plosgenetics/a…

The result of exceptional team efforts and tireless work by our wonderful team #BalaskasLab 🙏 Special thanks to @DunJackFu for his talent, skill and dedication that made this work possible. Most proud of our amazing team @Ismail_Moghul @npontikos

Hot off the press 👇‼️ jamanetwork.com/journals/jamao… Very proud to see the first AI-enabled analysis of Geographic Atrophy OCT feature changes over 24 months from the phase III DERBY & OAKS studies published by our team in @JAMAOphth 😀@MoorfieldsBRC @UCLeye 🙌