David Mas-Ponte

The paper identifies a mutational signature in normal kidney cells linked to kidney cancer initiation through hypoxia-driven genetic changes.

The paper measures germline mutation rates in a family with MUTYH pathogenic variants, finding elevated C>A mutations in children of affected mothers but not fathers, suggesting maternal-specific mutator effects.

The paper identifies sub-gene scale mutation rate heterogeneity linked to DNA hypomethylation and different mutational mechanisms across gene regions.

The paper introduces the Cancer LncRNA Census (CLC), a curated resource of lncRNAs with causative roles in cancer, and shows their genomic and evolutionary features.

LncATLAS provides a database of lncRNA subcellular localization in human cells using RNA-seq data, offering tools to query and compare localization across cell types and organelles.