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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
B.S. MDs are the only people I know who are addressed as “doctor” by their co-workers. I know very few academic scientists who refer to themselves or their colleagues by their credentials. “Dr.” is used mainly as formal way of addressing someone who you have just met.
Dr. Priyam Bordoloi@DocPriyamMD
Medical Doctors: Hey, I'm the cardiologist keeping you alive, just call me Alex. PhDs: Please refer to me as Dr. Monica, I did my thesis on ancient pottery. Look, I know the word 'Doctor' comes from the Latin docere (to teach). I know academics had the title first and I have full respect for the grind. But why are they always the ones defending the title like their lives depend on it? If someone screams "Is there a doctor on the plane?!" absolutely nobody is looking for a Doctor of Philosophy
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Trigger warning. Today's Press Play with @TheMadBrand is not suitable for parents that are still recovering from PBSSD (Post Baby-Shark Stress Disorder). My youngest is now a freshman in college and I'm still recovering from that earworm.
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Jonathan Sebat retweetledi
Take a look at the “Behind-the-Scenes Journey” from the Editorial on Challenges and Strategic Insights of the DepGenAfrica study @depgenafrica as provided by @PGC_Africa’s Comm’s rep @jaredgmaina and colleagues 🛠️🚀
cambridge.org/core/journals/…
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Jonathan Sebat retweetledi
Join us this July at the inaugural Gordon Conference on Neural Genetics and Epigenetics! We’re excited to bring together researchers across neuroscience, genetics, and epigenetics for an exciting lineup. #genetics #epigenetics #neuroscience
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Jonathan Sebat retweetledi
Hello from the PGC Africa working group 👋 Today, we begin our takeover to share with you exciting happenings from the working group and its members🎉This takeover is proudly brought to you by @PGC_Africa Africa Comms and Outreach team. Stay tuned!
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@autismgadfly autism is also genetically correlated with high IQ
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some people never have sex and here's why, an interesting article by one of my favorite nonfiction writers R. Douglas Fields. Not surprisingly #autism was a condition found to be related to sexlessness, but surprisingly sexlessness was found to be genetically correlated with higher intelligence:
rdouglasfields.com/2025/10/28/som…
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DEVIL: Scalable, fast and accurate differential gene expression testing from millions of cells of multiple patients biorxiv.org/content/10.110…
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@sebatlab @MariaChahrour It was a choice to have Illumina as part of the title in an article about the shortcomings of short-reads
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A very nice commentary from @MariaChahrour on new studies on long read sequencing including ours. 🙂
Cell Genomics@CellGenomics
Illuminating hidden genetic architecture in autism dlvr.it/TSYWnj
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@girishkaitholil @MariaChahrour Yes some of the missing rare variant contributions are SVs and especially TRs that are not captured well by short reads. Equally important though is inferring the functional consequence of variants that were already detected by SR-WGS but could not be assembled end to end
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@sebatlab @MariaChahrour the hidden architecture mostly isn't SNVs, it's the tandem-repeat expansions and mobile-element insertions short-read drops in low-complexity and seg-dup regions. long-read isn't finding new variants so much as finally reading ones short-read silently threw away.
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@Helena_LB Yeah usually the channel the driver was listening to originally is better than the one they change it to when they pick up suburban white people. I guess they only hear from the people that complain
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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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