Dariel Ashton-Beaucage, PhD

@mdvigeland Would be awesome to be able to add symbols for spontaneous abortions as those are frequent in most pedigrees.

My pedigree & relatedness tool is published!🎉 bmcbioinformatics.biomedcentral.com/articles/10.11… #rstats #shiny

To learn more about this term, read the editorial “Linking a Neurodevelopmental Disorder with a lncRNA Deletion” by Ling-Ling Chen, PhD: nej.md/4hkctuu Explore more terms: nej.md/glossary

J'ai eu beaucoup de plaisir à faire mes recherches sur ce sujet étrange, dont j'ai appris l'existence grâce à @darielab. Les «Jumping Frenchmen»: Un phénomène mystérieux aujourd'hui disparu via @acadienouvelle acadienouvelle.com/dossier/2023/1…

@davidasinclair To your knowledge, is there any data on lifespan for people with hemochromatosis?

New study shows people with increased iron blood markers tend to have older epigenetic ages. Another piece of evidence that high iron levels probably accelerate aging… 1/n tinyurl.com/zhy72aun

Fascinating new preprint on bioRxiv tackles a whale of a question: Whales are huge. So why don’t they get a ton of cancers? biorxiv.org/content/10.110…

A cartoon by @himelblog and @shodell. #NewYorkerCartoons nyer.cm/RnkTvnU

🎉 Today marks the first day of Rare Disease Awareness Month 2023! 📣 Join us this month to raise awareness for the 300 million people living with a rare disease worldwide! 👉 Find out how you can get involved: cutt.ly/w9tI5Pb

🔥🔥🔥New Preprint: “On the Genes, Genealogies, and Geographies of Quebec” Using a genealogy with 5M linked records, we present a high resolution model for the appearance of genetic variation in an extended settler population. biorxiv.org/content/10.110… 🧵for details 1/6

This study published in @GeroScienceAGE has some significant limitations that IMHO preclude any interpretation at all. It is being misrepresented in ways that are potentially damaging to the field. I will attempt to explain why /1

Easily one of the best podcast episodes I've listened to this year! podcasts.google.com/feed/aHR0cHM6L…

IT HAS HAPPENED!!!

@ksamocha @RYbioinfo Great work @RYbioinfo !

MT for Rachita Yadav (@RYbioinfo) #ASHG22: Two lead ASOs rescue some but not all of the molecular signatures. Work is still under way here by many in the group.

MT for Rachita Yadav (@RYbioinfo) #ASHG22: Causal mechanism was alternative splicing of exon 32 + intron retention. TAF1 expression was reduced in patients, but not by much. TAF1 is very constrained so males really cannot tolerate losing their copy.

MT for Rachita Yadav (@RYbioinfo) #ASHG22: Looking into using antisense oligonucleotide (ASOs). ~70 cell lines and 12 ASOs. The two lead ASOs are really effective at correcting splicing; less good at correcting intron retention; not good at rescuing expression.

Great talk by Keren Isaev at #ashg22 on using CRISPR/Cas13 in HT screening to identify mRNA isoform specific function.

Come check out the Splicing/\togther/\the/\story session Auditorium A. #Splicing #RNA #ASHG22 The session is packed with fantastic science

@michaelhoffman Fixin's (sould food) and Sol Agave (mexican) are pretty good & near the conf centre.

Any suggestions on places to eat lunch? #ASHG22

@MichelCayouette Redundant genes? Or maybe a synthetic effect that is too modest to be picked up on the single KO context.

OK Twitter: we knock out gene 1 or gene 2 individually and see no effect on phenotype A, but when we knock out both genes we see phenotype A. We conclude that genes 1 and 2 cooperate to regulate phenotype A. Do you see a problem with this?

#AcademicTwitter #AcademicChatter

Delighted to share our latest work in its final form (and open access!). Here, we studied the rate at which somatic mutations accumulate in different species to address some long-standing hypotheses. 🧵… 1/ nature.com/articles/s4158…

@Wal_Trudeau C'est pas étonnant vu le scientifique en question. Son article sur l'hydroxychloroquine vs. COVID avait une qualité méthodologique encore plus faible selon moi!