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I'm pleased to share our latest preprint: Combinatorial effects of gene dosage, polygenic background and environment on complex traits 🧵medrxiv.org/content/10.648…
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Jonathan Sebat
17K posts
Jonathan Sebat
@sebatlab
From DNA to the brain. Occasionaly fatherhood, cycling, indie rock. No, Dad will not turn his music down.
La Jolla, CA Katılım Ekim 2014
2.8K Takip Edilen5K Takipçiler
Jonathan Sebat retweetledi
A news reporter asked Michael Jordan if he thought the ’90s Bulls could beat LeBron’s Lakers.
MJ: Yes.
Reporter: By how much?
MJ: Two or three points.
Reporter: Why so close?
MJ: Most of us are almost 60 now.
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Maybe I won’t need to do lengthy Twitter threads about my own papers if I can trick @doctorveera into doing them 🤔
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Jonathan Sebat retweetledi
If you want to know what 3′UTRs with long conserved sequence stretches do, check out our BioRxiv preprint doi.org/10.64898/2026.….
They form functional intermolecular 3′UTR-3′UTR interactions that enable co-folding of proteins to rapidly induce transcriptional programs.
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Jonathan Sebat retweetledi
New work from us pooling together clinical sequencing data to identify large effect common risk variants for rare cancer types. This included a novel HLA locus that interacts with HPV infection to increase Anal Cancer risk.
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@MariosGeorgakis Where did ther term "masking" come from? Computer science? Old school computational geneticists like me tend to use terms like variant "tier" or "class" or a "scoring threshold"
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Selecting rare coding variants to include in gene burden tests is increasingly complex. Each study applies a different "masking" strategy based on functional impact & frequency.
This nice paper reviews different strategies, compares them, and proposes a default approach.
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Jonathan Sebat retweetledi
Buffering of gene dosage response curves for human complex traits dlvr.it/TSQXBN
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@kkbaldwin238 @EricTopol We need a larger sample size! (of votes not SFN members).
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@sebatlab @EricTopol I agree but why did the largest group of us choose ASHG and SFN ? i chose it instinctively - could it be the balance between n=high numbers and also low variance based on few other confounds ? call me old fashioned
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Six (yes, 6) college football players with non-concussive head injury (NHI) and changes in their gut microbiome. No controls. What can you conclude from this?
Not this:
"Our results provide strong evidence for a link between NHIs and changes in the diversity and composition of the gut microbiome."
journals.plos.org/plosone/articl…
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Jonathan Sebat retweetledi
Population geneticists! Come work at 23andMe! New role just posted.
23andme.wd5.myworkdayjobs.com/23/job/Palo-Al…
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@EricTopol I do realize that Kurt Cobain’s current microbiome would be an outlier
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@EricTopol What would be the most interesting microbiomes to compare
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I’m sure gut microbiome associations with TBIs on the football field have NOTHING to do with Papa John’s and Bud Light
Eric Topol@EricTopol
Six (yes, 6) college football players with non-concussive head injury (NHI) and changes in their gut microbiome. No controls. What can you conclude from this? Not this: "Our results provide strong evidence for a link between NHIs and changes in the diversity and composition of the gut microbiome." journals.plos.org/plosone/articl…
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Jonathan Sebat retweetledi
This, from @MeganMolteni, is frickin' cool.
"How a global effort to explore the ‘dark proteome’ is upending our understanding of human disease."
I remember when everyone was shocked that there were only 30,000 protein-coding genes found by the Human Genome Project. This is why: there are all these layers of complexity with RNA and protein fragments "editing" that original script. It's far more complicated than geneticists imagined 25 years ago. Fascinating, daunting, and kind of a beautiful mess.
statnews.com/2026/05/06/dar…
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Jonathan Sebat retweetledi
ADHD is highly genetic, but we still do not fully understand all the genetic factors involved.
A new large-scale study helps fill an important part of that gap.
#ADHD
#genetics
#psychiatry
#mentalhealth
nature.com/articles/s4158…
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Jonathan Sebat retweetledi
Our best shot for preventing many diseases?
Exercise
A @Cell_Metabolism new review
cell.com/cell-metabolis…
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Jonathan Sebat retweetledi
@MariosGeorgakis Polygenic would only approach monogenic in limited circumstances:
1) polygenic disorders with >=1 strong peak, such as Type 1 diabetes (which is really oligogenic);
2) monogenic risk factors that are only moderately penetrant
We have examined this here: nature.com/articles/s4152…
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Jonathan Sebat retweetledi
Pleased to announce that our paper, Meta-analysis across six global biobanks identifies recessive coding associations with complex traits and diseases, is now officially published by @AJHGNews.
A quick 🧵 below:
cell.com/ajhg/fulltext/…
#recessive #GWAS #metaanalysis #genomics
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And I was his stand in for a low budget movie. That was the last paid one day job I had (at central casting) That was my last employment I had about 14 years ago or so.
Miles Commodore@miles_commodore
How is Meat Loaf not in the Rock N Roll Hall of Fame? I have a new rule, anyone who sells over 100 million copies automatically gets in.
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Jonathan Sebat retweetledi
CNV x BMI x Age interactions on height have potential CLINICAL implications. Many of these CNVs contribute to neurodevelopmental disorders. Our results suggest that genetic effects on development are modifiable through metabolic and hormonal pathways.
Jonathan Sebat@sebatlab
If you thought CNV*age interactions were dramatic, check out the CNV*BMI*age interaction. 16p11.2 DEL has a negative effect on height in newborns and adults and a transient positive effect in early puberty restricted entirely to the subset of kids with childhood obesity 14/N
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