Carol Moraga

nf-sarcopipe enables integrative discovery of exercise-responsive miRNAs and miRNA-mRNA regulatory networks associated with skeletal muscle adaptation

nf-sarcopipe identifies exercise-responsive miRNAs and miRNA-mRNA regulatory networks in skeletal muscle adaptation using integrative analysis of miRNA discovery and transcriptomic data.

Accurate haplotype-resolved de novo assembly of human genomes with RFhap

RFhap improves haplotype-resolved de novo assembly of human genomes by enhancing phasing accuracy and reducing errors compared to existing methods.

Ultra-deep sequencing reveals intra-host diversity and co-infection-driven evolution of SARS-CoV-2

This study uses ultra-deep sequencing to analyze intra-host SARS-CoV-2 diversity and co-infection-driven evolution in Chilean patients, finding increased genetic diversity and positive selection in the Spike gene during co-infections.

The Silene latifolia genome and its giant Y chromosome

This study sequences the giant Y chromosome of Silene latifolia and reveals its structure, function, and evolutionary history.

Clade-wide fungal proteome analysis reveals structure-function conservation in divergent Dicer proteins

The paper analyzes fungal Dicer proteins across eight phyla, revealing structural and functional conservation despite divergence from canonical domain architectures.

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

The paper develops a Nextflow pipeline for BRCA1/2 variant detection in Chilean breast cancer patients using targeted sequencing and variant callers, identifying one pathogenic variant among 16 samples.

BrumiR: A toolkit for de novo discovery of microRNAs from sRNA-seq data.

BrumiR is a toolkit for de novo discovery of microRNAs from sRNA-seq data, achieving high recall and efficiency without a reference genome.

Whole genome sequence of Mapuche-Huilliche Native Americans

The paper presents the whole genome sequences of 11 Mapuche-Huilliche individuals, identifying novel variants and structural events, and highlights their potential relevance to disease susceptibility in admixed populations.