Cancer genomics

A multi-omic, spatial, and whole-slide image dataset of lung neuroendocrine tumours from the lungNENomics cohort

This preprint presents a multi-omic dataset for lung neuroendocrine tumours from the lungNENomics cohort. The resource includes RNA sequencing, EPIC 850K methylation arrays, whole-genome sequencing, multi-regional sequencing, spatial proteomics, …

A clinically relevant morpho-molecular classification of lung neuroendocrine tumours

This preprint integrates genomics, transcriptomics, methylation, spatial profiling, morphology, and clinical data to refine the classification of lung neuroendocrine tumours. The proposed morpho-molecular groups expose clinically relevant tumour …

TERT expression and clinical outcome in pulmonary carcinoids

Across discovery and validation cohorts, this work shows that TERT expression separates pulmonary carcinoids into biologically and clinically distinct groups. High TERT expression is associated with more aggressive disease behavior and poorer …

A workflow for clinical profiling of BRCA genes in Chilean breast cancer patients via targeted sequencing

This work presents a reproducible Nextflow workflow for targeted sequencing analysis of BRCA1 and BRCA2 in Chilean breast cancer patients. The pipeline integrates germline variant calling, annotation, and clinical interpretation to support precision …