If you've ever wondered what it's like to try to build a company ( #MyOneHillToDieOn )

intriguing & slightly surprising to me - whenever I've looked for scRNA-seq support for a target, 9/10 it's not expressed sufficiently in any cell type of interest to draw conclusions (:

Thrilled about our 2nd official #EbbertLab paper submitted by Madeline Page💪, ‘Surveying the landscape of #RNAisoform diversity and expression across 9 #GTEx tissues using #longread sequencing data’. Data by Dafni Tuuli Lappalainen Beryl Cummings @BernardoHeberle Ja Brandon ONT-Bob Hope Airport

Human genetics FTW again, although you'd be surprised how much convincing it still can take these days :)

Now out in Science Translational Medicine

A novel small molecule approach to treat patients with Pompe disease (who have impaired glycogen breakdown) by blocking the production of glycogen.

science.org/doi/10.1126/sc…

1/x

After being away from the hands-on analysis, there's something surprisingly soothing about being back to my Solarized Dark iterm2 for an analysis or two 😅

Some things never change #ASHG2023

That was such a lovely, clear, and well-laid out talk from Dominique L. Brooks - my favorite thus far! #ASHG2023

Exciting new company!

I hear their Head of Platform is *phenomenal*!

If I understand correctly Nancy Cox just acknowledged that human genetics didn’t really predict benefit of GLP1s and SGLT2s, as an example of “what we don’t know”. Great point! #ASHG2023

Nancy Cox is such a boss #ThatsTheTweet #ASHG2023

I was musing about the last time I felt deeply engaged in with an ASHG presidential address. It was my first ever ASHG and Neil Risch gave a whirlwind of a talk.

So cool to see him on-stage with the same energy 8 years later :) #ASHG2023

x.com/beryl_bbc/stat…

Excited for #ASHG23 !

#ASHGTrainees - I did PhD > biotech start-up > VC / newco creation > head of genetics & PTL of lead program at newco I helped build.

I'm on a forever mission to pay fwd the mentorship I received. If you ever want to chat pls reach out or say hi at a party!

Conclusion for industry: listen to the geneticists - human genetics continues to nominate good ideas, and you haven't yet tried most of them.

Apparently it's almost $6k, but I really wish Open Targets would buy the genetics.opentargets.com domain 😅

Calling all #genetics #trainees ! The Gordon Research Conferences for trainees (GRS) for human genetics abstract submission deadline: May 5th, 2023.
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Come join us for a scientifically stimulating program.
Details: grc.org/human-genetics…
Tagging previous GRC and GRS HGG Co-Chairs! :)

I have the utmost respect and admiration for the DDD project. What an incredible impact it has made in the field of genetic diagnosis, and more importantly, patients lives.

I hope the data can translate into developing new therapies for these patients.

I've been getting chatGPT to analyze the tone of my e-mails.

So far it's been pretty on-point but in some cases, I rewrite.

Just plain fun honestly!

New feature on gnomAD! For pairs of rare variants, we predicted the number of individuals in gnomAD with these variants in cis and in trans, split by allele frequency and predicted consequence.

We have a blog post to describe this, but watch this space! 👀 Preprint coming soon.