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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.
Nanoparticle-enriched mass spectrometry proteomics in British South Asians identifies links between genetic variants, plasma protein levels and disease risk
It is demonstrated how untargeted nanoparticle-enriched mass spectrometry (MS)-based plasma proteomics delivers quantitatively and qualitatively different insights compared to two affinity-based assays in a sample of ~1,400 British South Asian individuals.