David Castellano

The paper identifies a hypermutation hotspot at transcription start sites in the human germline, linked to early embryogenesis and distinct from known mutagenic processes.

The paper shows non-hypermutator cancers adapt by reversing germline mutation bias, enabling access to driver mutations through altered mutation spectra.

ConfuseNN evaluates how genomic features affect CNN performance in population genomics by systematically shuffling input data.

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

The paper identifies extreme selective sweeps on the human X chromosome that displaced Neanderthal admixture around 50,000 years ago, suggesting a population without Neanderthal admixture contributed these haplotypes.