Most people know that ALS is a deadly disease.
But most don't know that an ALS diagnosis is often missed at early disease stages due to lack of specific biomarkers.
Now, a plasma proteomic signature of 33 proteins (based on Olink Explore) achieved discrimination of >95%!
Glad to share that long-read sequencing is now solving short read-negative rare disease cases from Central Asia & Transcaucasus, part of the @CAT_Genomics . We report CSNK1E-CGG expansion in PME with incomplete penetrance: https://t.co/n7e3PmXvRO
Thanks to MJFF&GP2, @IonSynapse
Come join us on our SV, graph genome hackathon August 27–29, 2025: https://t.co/QDdqGvHRYY
Seats are filling up! It will be great opportunity to work together on some prototypes. We will publish them together in F1000.
@RiceUniversity@bcmhouston#bioinformatics#openscience
@ec_bayram@FlorissantNPS If you used credit card, dispute the transaction with the card provider. My doctor’s office do this to me (happened twice so far) and take months to revert it back 🙄
Just watched the full House hearing & testimony of NIH Director Dr. Monica Bertignolli.
A few takeaways:
• the proposed budget, in addition to not increasing for inflation, wants to condense NIH from 27 to 15 institutes. The NIH does not think this is a good idea.
🧵1/?
Kind of gross that people are mocking the massive geographic bias in genetics and genomics studies. As of 2019, 71.8% of participants were recruited from only three countries: the US, UK, and Iceland.
https://t.co/PzNXQI7lqI
2 friends are getting divorced after 26 years of marriage and my god this is the NICEST divorce I’ve seen! Woman had left her job to take care of the house. Now the husband is buying her a house, doing it for her taste because he knows it better than her, building her multiple FDs, bonds, so she has regular income every month, parked gold for her future security, bought a land on her name, got a very high value medical insurance and there is zero ugliness through this whole process! He is doing everything to insure she is going to be financially safe without him. None of them would stand hearing one bad thing about the other, let alone bad mouth about each other.
Love may end but respect shouldn’t. Really a case study!
#NIH-supported research: A careful analysis found that air pollution from coal power plants is associated with greater mortality than previously thought.
https://t.co/T2Ep1UkswC