Self-supervised representations of cortical folding are established as a powerful phenotype for the genetic study of neurodevelopment through multivariate genome-wide association studies (GWAS).
Cortical folding of the brain is widely regarded as an interplay between genetic programming and biomechanical forces, closely linked to cytoarchitectonic regionalisation. Abnormal folding patterns are frequently observed in neurodevelopmental conditions and psychiatric disorders. However, significant inter-individua...
You-Rong Guo, Mohamed A. Suliman, L. Williams et al.· Nature Communications· 0 citations
This work presents the first genome-wide association study (GWAS) of subcortical LBA, estimated using a deep neural network applied to T1-weighted MRI scans from 41,957 cognitively normal participants in the UK Biobank, and identifies 14 significant single-nucleotide polymorphisms across nine independent loci.
Nicholas J. Kim, Ayati Mishra, Jeremy S Yu et al.· GeroScience· 0 citations
Genetic prediction of complex phenotypes typically relies on additive linear models, which scale well but cannot capture non-additive effects or deeply integrate molecular and clinical data. Domain-specific neural networks have driven advances in images, text, and other modalities, but genome-scale neural networks rema...
J. Upmeier zu Belzen, L. Arnoldt, N. Hollmann et al.· medRxiv· 0 citations
Self-supervised models increasingly convert medical images into quantitative phenotypes for biological discovery, but statistical reproducibility does not establish that a learned phenotype represents the intended anatomy. We trained a video masked-autoencoder on 69,932 UK Biobank cardiac cine-MRI studies and performed...
BACKGROUND
Schizophrenia is increasingly conceptualized as a disorder of large-scale brain network organization arising from atypical neurodevelopment. However, the relationship between early-emerging cortical folding patterns and the maturation of the structural connectome remains poorly understood.
METHODS
We intro...
J. González-Peñas, H. Schnack, Carmen Rueda Hernández et al.· Biological Psychiatry· 0 citations
Overall, this work identifies a conserved transcriptional axis that links cortical architecture to developmental timing and organizes the heterogeneous cortical effects of autism-associated mutations.