Causal disease effect sizes of proximal single-nucleotide polymorphisms (SNPs) are widely assumed to be independent but could be correlated. Here we introduce a new method, linkage disequilibrium SNP-pair effect correlation regression (LDSPEC), to estimate the correlation of causal disease effect sizes of derived allel...
M. Zhang, Arun Durvasula, C. Chiang et al.· Nature Genetics· 0 citations
MUGO (Multi-head Genomic Optimization), an in silico perturbation framework that casts variant discovery as differentiable combinatorial optimization over genomic sequence, and MUGO-prioritized variants are enriched for GWAS signals across diverse tissues and a broad spectrum of complex traits.
Si-Ying Sun, Jun-Hao Liu, Peng-Cheng Xu et al.· Proceedings of the 32nd ACM...· 0 citations
Deciphering how non-coding variants perturb gene regulation is central to translating GWAS loci into mechanism, yet existing prioritization methods rarely deliver cell-type-resolved molecular effects, causal variant-to-gene attribution, or principled reasoning about combinatorial interactions. We introduce MUGO (Multi-...
Si-Ying Sun, Junhao Liu, Pengcheng Xu et al.· Proceedings of the 32nd ACM...· 0 citations
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