Jonathan Sebat
@sebatlab
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From DNA to the brain. Occasionaly fatherhood, cycling, indie rock. No, Dad will not turn his music down.
La Jolla, CA
Joined October 2014
We are proud to be one of the 13 projects funded by the NIH Autism Data Science Initiative. Our project: "Elucidating the Interplay of Genes and Environment in Autism Using Genomic and Exposure Data from Large Populations" 🧵 https://t.co/7gp6gBNYgn
nytimes.com
Many scientists were pleased to learn that N.I.H. funding will go to leading experts examining complex new theories, not only fears over vaccines.
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Now that the white stripes are in the Rock n Roll hall of fame, you are officially a full professor
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Hot off the press @NeuroCellPress "From variants to mechanisms: Neurogenomics in the post-GWAS era" Genetic architect -> biological mech for ASD/SCZ/AD Major effort led by MSTP student Michael Margolis + great collab w/ @MichaelZiller5 & @WrayNaomi
https://t.co/Iskl55oEAK
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It's a good thing autism genes have so much functional convergence. Because if actually they had ALOT of divergence, there is no way we could tell in a study of 9 genes.
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journal covers are making a comeback
The new issue of @genomeresearch is now live. Follow the link to new research on wheat centromere adaptation, Quadrupia - a G-quadruplex database, and more! https://t.co/z92AyqY1Wv
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This but for Nobel Laureates 🤣
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Check out our new resource paper @CellStemCell, where we present a brain organoid atlas of human neurodevelopmental disorders. Surprising was that nearly all patients had abnormal organoids. The challenge was aligning defects to clinical. https://t.co/0YtGTd4Dwb
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Our daily reminder that clinical genetics is not just for intellectual disability and for the occasional rare disease that some octagenerian doctor can diagnose from their clinical eval. Adults with common disease need clinical genetic testing.
Genome sequencing of ~30k predominately African-ancestry individuals in the Vanderbilt biobank. Relatively few people who have disease risk variants are aware of it. https://t.co/vcoYufvhbD
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What fraction of trick or treaters are going to be wearing black chucks? -1% -5% -10% ->10%
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Please RT: We are recruiting a postdoc in statistical genetics for a project in my lab on genes and environment in autism
We are proud to be one of the 13 projects funded by the NIH Autism Data Science Initiative. Our project: "Elucidating the Interplay of Genes and Environment in Autism Using Genomic and Exposure Data from Large Populations" 🧵 https://t.co/7gp6gBNYgn
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Check out the @n_lorem 2025 Nano-rare Patient Colloquium held @biogen last week. So many amazing families and patients benefiting from #ASOs for rare conditions. https://t.co/CNm235bGgW.
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Rare diseases are not just associated with autism and schizophrenia. They part of the polygenic basis of ALL complex traits, including mood disorders, adhd, ptsd
medrxiv.org
Rare copy number variants (CNVs) are a key component of the genetic basis of psychiatric conditions, but have not been well characterized for most. We conducted a genome-wide CNV analysis across six...
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I would argue yes! But the paradigm really started shifting around 2010
pubmed.ncbi.nlm.nih.gov
The genetic bases of neuropsychiatric disorders are beginning to yield to scientific inquiry. Genome-wide studies of copy number variation (CNV) have given rise to a new understanding of disease...
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I really love this paper on rare disease cases found within common metabolic, immune and cardiovascular disease. Is it a paradigm shift?
nejm.org
Misdiagnosis or underdiagnosis of rare diseases in patients with diagnoses of common diseases can lead to delayed or inappropriate treatments, thereby complicating the management of both rare and c...
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I did not realize how much of a genius Ray Parker Jr. was until I scheduled a gig for Halloween night
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