Although Alzheimer's disease (AD) has a polygenic architecture, with numerous associated single-nucleotide polymorphisms (SNPs) identified, the contribution of structural variants (SVs) is unclear. In this study, using long-read (n = 11) and short-read (n = 3,190) sequencing data from the Chinese population, we show th...
To investigate ancestry-specific genetic contributions to ASD, whole-genome sequencing data from three independent ASD cohorts was analyzed and admixture mapping identified five ancestry-specific ASD-susceptibility loci.
M. Mendes, Chen-Yang Xu, W. Engchuan et al.· Molecular Psychiatry· 1 citation
This framework integrates predicted perturbation effects with genomic evidence to support autism candidate prioritization and identifies a telencephalic neuron-specific model best preserving autism-relevant perturbation structure.
I. Koh, E. Chang, Youngseok Choi et al.· bioRxiv· 0 citations
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