By comparing two annual killifish genomes, this study shows that Garcialebias charrua experienced a recent and unusually large genome expansion driven mainly by repetitive elements. The analysis links transposable element bursts with genome …
RFhap is a reproducible workflow for haplotype-resolved de novo assembly of human genomes using parental short reads and child long reads. The method assigns long reads to parental haplotypes and evaluates downstream assemblies with haplotype-aware …
This study reconstructs transcriptional regulatory networks in diabetic cardiomyopathy to identify modular gene-control programs and candidate regulatory drivers. The analysis highlights coordinated transcriptional modules linked to disease biology …
This preprint uses ultra-deep whole-genome sequencing of SARS-CoV-2 samples from Chile to characterize intra-host variation, low-frequency mutations, co-infections, and variant-level evolutionary dynamics. The study shows how high-depth viral …
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 …
This preprint examines how willow and pine growth alters the physicochemical and microbial environment of copper mine tailing soils. Vegetated sites showed reduced copper stress, more neutral pH, shifts in bacterial abundance and interaction …
This study applies genome-resolved metagenomics to microbial communities from a copper mining tailing in central Chile. By reconstructing metagenome-assembled genomes and analyzing metabolic pathways and selection signals, the work identifies …
This study analyzes the relationship between Amerindian ancestry and clinical outcomes in a Latino inflammatory bowel disease cohort. The results suggest that ancestry proportions are associated with distinct Crohn's disease and ulcerative colitis …
This work combines fermentation experiments and genome analysis to characterize Halomonas sp. HG01 as a robust producer of polyhydroxyalkanoates from multiple carbon sources. The study defines polymer yield, substrate range, and biosynthetic …
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 …