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Author

M. Reinders

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Open access Aug 2026

Beyond benchmarking: an expert-guided consensus approach to spatially aware clustering

This work presents SACCELERATOR, an open-source, extensible framework that formalizes expert-guided spatial clustering analysis, and proposes a consensus-guided workflow where descriptive spatial metrics highlight high-entropy regions of method disagreement, enabling targeted feedback for tissue experts.

Jieran Sun, Kirti Biharie, Peiying Cai et al. · 0 citations
Open access Aug 2026

Exome analysis of 22,319 individuals links extremely rare copy-number variants and 22q11.21 dosage to Alzheimer risk.

It is concluded that rare coding CNVs in a proportion of AD-associated genes and 22q11.21 duplication as a strong AD-risk-decreasing factor increase AD risk and Conversely, 22q11.21 duplication as a strong AD-risk-decreasing factor is identified.

O. Quenez, Catherine Schramm, K. Cassinari et al. · 1 citation
Open access Jul 2026

snpXplorer: an interactive platform for haplotype-aware exploration and integrated annotation of GWAS data

Background Genome-wide association studies (GWAS) have identified thousands of loci associated with complex traits and diseases, yet translating these signals into biological insight remains challenging. Most associated variants are non-coding and reside in linkage disequilibrium (LD) blocks, where multiple correlated...

N. Tesi, G. Green, A. Salazar et al. · 0 citations

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