Collab with @shaicarmi.bsky.social - Paper here:
www.nature.com/articles/s41...
14.01.2026 14:45
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Collab with @shaicarmi.bsky.social - Paper here:
www.nature.com/articles/s41...
Conclusion: PES is quite distinct from classical PGT-M for high-penetrance variants. However, PGT-M for moderate penetrance variants has recently been adopted by some clinics. This practice is more like PES, necessitating careful consideration of all factors affecting risk.
3) Through modeling and simulation, we show that PGT-M for a moderate penetrance variant would select the "wrong" (i.e., higher risk) embryo ~5% of the time (given at least 1 carrier and 1non-carrier embryo, both female). IOW, the non-carrier embryo is at higher risk due to PRS.
2) By contrast, carriers of moderate penetrance (OR~2) risk variants for breast cancer (ATM, CHEK2, BARD1, RAD51C/D) demonstrated risk profiles overlapping non-carriers with PRS ~1.5SD higher (black dotted line).
1) Carriers of BRCA1 had risk distributions that were disjoint from non-carriers, regardless of polygenic risk scores (red dashed line in Figure above). Similar results were observed for BRCA2 and PALB2 carriers (blue dashed line).
New Year, New Paper! #PolygenicEmbryoScreening
We examined the interaction of rare and common variation for breast cancer in the context of PES, with three key findings detailed in posts below...
Check out the paper for demonstrations of this effect in simulations and three datasets. We need to understand how PGS perform in clinical settings if they are ever to be useful as predictive markers, which is what we are trying to accomplish with the FEP-GEN consortium. 5/6
Are one or more of the polygenic embryo screening companies currently active/visible in South Korea?
Polygenic embryo screening is being marketed commercially – but how do IVF clinicians view it?
• General approval is low (12%)
For specific uses:
• 59% approved of health-related embryo selection
• 6% approved of trait-based selection
🧵 Survey findings in NPJ Genomic Medicine
See my pinned tweet for more details
Greetings #WCPG2025 from Cancun!
If you’re at the meeting and looking for a postdoctoral or research scientist position, come find me at poster M66 tonight!
Please see our new work, led by @shaicarmi.bsky.social - in addition to a free online risk calculator, we demonstrate (for the first time), the degree to which real-world live birth rates attenuate the potential risk reduction in polygenic embryo screening (PES)
Given that we are unlikely to scale much beyond this enormous dataset anytime soon, this appears to be quite a negative result…
We lay out three consensuses from the field of psychiatric genetics that should be considered before approving genetic tests for psychiatric disorders. The letter was signed by 140 experts in psychiatric genetics and published in Lancet Psychiatry. Now on Pubmed: pmc.ncbi.nlm.nih.gov/articles/PMC...
Congratulations, Sunny—All the more impressive given the current environment. Your work is truly at the cutting edge!
This looks fascinating - I can’t wait to read it in detail.
I am wondering if your approach resembles something we tried on a much smaller scale a few years ago: pubmed.ncbi.nlm.nih.gov/32956347/
Need to double-check but I think it could be design / MAF cut-offs for each type of study
Concordant SNPs (low cognition / increased SZ risk) were associated with early neurodevelopmental (prenatal) forebrain abnormalities. Discordant SNPs (high cognition / increased SZ risk) associated with adult synaptic function and hindbrain (cerebellar) development. (2/3)
New publication!
We expand on our prior work demonstrating that pleiotropic effects of cognitive GWAS can provide biological insights into schizophrenia GWAS results. We differentiated "concordant" from "discordant" subsets of schizophrenia risk SNPs (1/3)
💯 always take the reader by the hand and walk them through slowly paragraph by paragraph
A very thoughtful and comprehensive piece on polygenic embryo screening in today's NY Times:
www.nytimes.com/interactive/...
Re-upping for the early crowd - link in reply
We identified 113 Bonferroni-corrected putatively causal associations (46 novel) involving 91 proteins, providing support for repurposing of anti-inflammatory agents for SCZ, amantadine for BD, retinoic acid for MDD, and duloxetine for CTP.
jamanetwork.com/journals/jam...
New Paper!
Online now in JAMA Psychiatry, we have performed a large-scale Mendelian Randomization study of circulating proteins in schizophrenia, bipolar disorder, major depression, and cognitive task performance.
But then you run right into DISC1
We have a position open in my lab. Please see my pinned post!
I'm hiring a postdoc and/or bioinformatician in
psychiatric genomics and related fields
acnp.org/wp-content/u...
Unsure how recent changes in U.S. policy regarding the NIH will impact the psychiatric genetics world? You're not alone. Join ISPG for a Member’s Meetup for community discussion and support:
📅 Wednesday, January 29
🕗 3 PM EST
📍 Pre-Register: us06web.zoom.us/meeting/regi...
For me, the simplicity and ease of both upload and download are the best parts or bioRxiv and medRxiv. (Bravo, Richard!)
If anything, I notice that the site sometimes hangs despite the simplicity of the interface, suggesting that the network is already loaded to capacity.