José M. C. Tubío

This study uses whole-genome sequencing to show that LINE-1 retrotransposition directly causes chromosomal rearrangements and instability in cancer genomes.

The paper analyzes L1 retrotransposition in tumors using long-read sequencing, revealing synchronous L1 insertions drive chromosomal crossovers early in tumorigenesis.

The paper sequenced mitochondrial genomes of marine clams with transmissible cancers, revealing a single neoplastic lineage that spreads between species in Southern Europe.

The paper presents 64 haplotype-resolved human genomes using long-read sequencing and identifies structural variants, SV-eQTLs, and adaptive selection candidates.

The paper analyzes whole-genome sequencing data from cancer samples to identify genomic footprints of telomere maintenance mechanisms, finding specific telomere variant repeat patterns associated with ATRX/DAXX mutations.

The paper examines how somatic structural variations affect TAD boundaries and gene regulation in human cancers using whole genome sequencing data.

This study analyzes chromothripsis in 2,658 cancers using whole-genome sequencing, finding it prevalent across multiple cancer types with complex structural alterations.

The paper analyzes somatic retrotransposition events in 2,954 cancer genomes, identifying L1 insertions as significant contributors to structural variations and oncogenesis.

This study identifies two molecular subgroups of anaplastic meningioma with distinct survival outcomes and links them to specific genetic mutations.

The paper analyzes somatic rearrangements in cancer genomes using whole-genome sequencing data, identifying recurrent breakpoints and their genomic features.