Author

M. Kircher

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Open access Jul 2026

Massively parallel characterization and predictive modelling of neuronal regulatory variation

A large-scale lentiMPRA in human excitatory neurons is performed, quantifying the impact of >46,000 naturally occurring variants across >27,000 candidate CREs near 524 disease-associated genes, establishing a large-scale functional variant catalog and providing a complementary benchmark and resource for developing and evaluating models of noncoding regulatory variation.

Kilian Salomon, Chengyu Deng, P. Dash et al. · bioRxiv · 0 citations

Open access Jul 2026

Coordinate- and Sequence-Based Features for a new Combined Annotation-Dependent Depletion Framework of Structural Variants (CADD-SV v2.0)

This version introduces a unified Random Forest model trained on an expanded set of proxy-neutral and proxy-deleterious variants drawn from human and non-human primate genomes, and substantially improves the computational workflow, increasing predictive power for genome-wide SV interpretation.

Orazio Catona, M. Kircher · bioRxiv · 0 citations