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B. Neale

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Open access Aug 2026

Metabolic disease-relevant stimuli unmask context-dependent genetic regulation of cardiometabolic loci in human adipocytes

This study establishes large-scale adipocyte cell villages as a powerful and generalizable framework to map the context-dependent regulatory architecture of cardiometabolic disease and provides a resource linking human genetic variation to adipocyte cellular programs.

Yi Huang, Joaquin Perez-Schindler, Sanchari Datta et al. · 0 citations
Open access Sep 2026

Contribution of copy number variants to schizophrenia in East Asian populations

A significantly elevated genome-wide rare CNV burden in EAS cases compared with controls is observed, underscoring the importance of increasing population diversity to fully capture the genetic underpinnings of schizophrenia.

Yu Chen, Qi-Di Feng, Max Lam et al. · 0 citations
Open access Aug 2026

A unified framework for local-ancestry-aware genetic association analysis across biobanks

Biobanks increasingly include individuals with admixed genomes, yet conventional genome-wide association study frameworks either exclude participants who cannot be confidently assigned to a discrete ancestry group or ignore ancestry-specific effects. We present FELIX, a scalable framework for local-ancestry-aware genet...

L. Hu, T. Tan, K. Yuan et al. · 0 citations
Open access Aug 2026

Scalable context-dependent single-cell eQTL mapping reveals disease-relevant regulatory variation beyond static models

In adipose-derived mesenchymal stem cells exposed to metabolic stimulations, CASTIE increased eGene discovery by 36-92% across cell populations and identified stimulation-dependent regulatory effects at metabolic trait loci, revealing disease-relevant regulatory variation beyond static eQTL mapping.

Yijia Christiana Liu, A. Cuomo, Yi Huang et al. · 0 citations
Open access Aug 2026

A 515,579-Genome Reference Panel Improves Rare-Variant Imputation Across Multiple Underrepresented Populations

A cloud-based imputation service built on a multi-ancestry reference panel derived from 515,579 jointly phased genomes from the All of Us and AnVIL datasets, establishing a new foundation for genome-wide association studies (GWAS) and fine-mapping, especially in previously underrepresented populations.

Franjo Ivankovic, A. Ko, M. Aster et al. · 0 citations

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