In UK Biobank, individuals who had high polygenic score for educational attainment but performed poorly in fluid intelligence test and/or had poor education ('deviators') were more likely to carry neurodevelopmental disorder-related rare variants. Great demonstration of liability threshold model.
Kingdom et al. Nat Gen
@carolinefwright
https://t.co/4ZVfouveIt
In the dynamical systems view of psychiatric disorders, the healthy state has a basin of attraction representing its resilience, while disorders are alternative attractors in which the system can become trapped.
🧵1/11
This is important! Please retweet. Many researchers have asked us to have a control comparison group recruited the same way and with the same measures. If you have never exerienced mental illness or ill-health, please consider that your contribution could help those that do!
We're looking to hire a research assistant in my lab @LAND_IIT, focusing on EEG, eye tracking, and neuroimaging projects in autism. Deadline to apply is April 26th. Please get in touch with me for further info. https://t.co/Ov09DfExOV
A review and meta-analysis of studies that assess the relationship between the autism polygenic score and autism diagnosis, and autistic, behavioral and neurobiological traits: https://t.co/rKsIcKKCRl
Led by @MMPdeWit 🧬🧠
📢We are hiring 2 #Postdocs to lead new research projects: 1 with expertise in #bioinformatics (#transcriptomics or image analysis) 1 with expertise in hiPSCs and #organoids Funded for 3-5 years.
More information & instructions for application➡️ https://t.co/bj3KRbf3xH
Some of the published long-read sequencing (LRS)-based whole genome datasets:
🟥 1000 genomes (N=64; assembled) generated by the Human Genome Structural Variation Consortium (HGSVC) (https://t.co/W2ajp2zY66)
🟥 deCODE Genetics (N=3362; read mapped to GRCh38) (https://t.co/iwgoNaqwVD)
🟥 Medical Big Data Research Center, Beijing (N=320; read mapped to GRCh38) (https://t.co/XgBNFGfvMX)
🟥 Sun Yat-sen University, Guangzhou, China (N=405; read mapped to GRCh38) (https://t.co/jcRb3p5qWG)
There is a long way to go before long-read sequencing (LRS) catches up to the scale of short reads that we have today for human whole genomes (UK Biobank - 0.5M, All of Us 0.25M). But it's interesting to see the early studies that have planted the first milestones of the LRS timeline.
There are many efforts on the way to generate long-read human genomes. 1000G ONT Sequencing Consortium was formed in 2022 to sequence the full 1000 Genomes project samples (N>3000) (https://t.co/4hGM9iG2qu). Then, there is All of Us, which is generating a lot of long-read. It seems already 1000 LRS genomes are already available for researchers and the number is likely to increase in the coming years (https://t.co/la1DTYTriD). Exciting times ahead!
https://t.co/kSKVOZakyx
🧠🐒🐐🦘🦙🦌🐷🐻❄️🦫🦁🐑🐇🐈🦔🐕🦇🦭🦥🦓We’ve been diving into the mesmerising anatomical diversity and evolution of cerebellar folding across 56 mammalian species with @R3RT0@nicolas_traut@AleAliSousa@sofievalk
https://t.co/bQZHPvbsRT
Check it out in a short thread 🔽
I had the immense pleasure of giving my professorial lecture at @UofT and @SickKidsNews. I was truly honoured by the (online) attendance of many colleagues and friends. If you're interested in hearing the lecture, here 👇 is a link (starts at 20')
https://t.co/PGS1XLL8Ls
A few thoughts on the recent set of papers torture testing genomic deep learning for predicting individual-level gene expression [ https://t.co/rRUBH7sW6m , https://t.co/ZLcoXGPbWD , https://t.co/Je9pFg4kX2 ]. First a brief summary 🧵:
https://t.co/yUKnoeeA4r
🧬 Genetic variants implicated in autism detected in the general population
Nearly 1% of individuals from the general population carry strong genetic variations implicated in autism.
➡️ https://t.co/DixJ6TovQQ
A genome-wide meta-analysis of data from 6 US and European cohorts involving 1.3 million individuals identifies 243 genetic variants associated with risk and pathophysiology of depression @AndersBorglum
https://t.co/5mVa9DlGeW
“Rather than claiming that genes hold an exceptional explanatory power when it comes to developmental diversity, the authors embrace the complexity of development,” says Kristien Hens about a new study.
https://t.co/jw1Tkica0R
📢 Thrilled to announce our latest paper: "Subcortical Brain Alterations in Carriers of Genomic Copy Number Variants" has been published in the American Journal of Psychiatry @APAPubJournals. 🧠🧬
A tweetorial summary 🧵
@alzforum@AarhusUni@amsterdamumc I suggest that you have a look at our penetrance paper before claiming this
https://t.co/e1yRmwwLc7
SORL1 LOF variants are strong genetic determinants of AD but things are not that simple.
🧬 Des variants génétiques impliqués dans l’autisme détectés dans la population générale.
Près de 1 % des individus issus de la population générale portent des variations génétiques fortes impliquées dans l’autisme.
➡️ https://t.co/KAWQIy4nag
#autisme
@AndersBorglum and I are looking for two talented data analysts to ensure the @iPSYCHdk data remain a rich and useful source of knowledge for researchers also in the future.
#Bioinformatics#genetics
https://t.co/bD542LU9xj