Carla Giner-Delgado

The paper characterizes common human polymorphic inversions and their functional effects, showing they are enriched in functional variants and associated with phenotypic traits.

The paper releases and evaluates polygenic risk scores for 53 diseases and traits in the UK Biobank and shows they outperform existing scores.

This study shows that stabilising selection enriches the tails of complex traits with rare alleles of large effect, which may have significant clinical implications.

The paper validates inversions in the human genome using droplet digital PCR, showing their frequency, recurrence, and functional effects across populations.

The paper studies 45 common human polymorphic inversions, showing their functional and evolutionary impact, including gene disruption and association with phenotypic traits.