José Eduardo Kroll

GTX-GUT: A Standardized Metagenomic Workflow for Gut Microbiome Profiling and Clinical Associations

GTX-GUT is a standardized metagenomic workflow for gut microbiome profiling that integrates quality control, taxonomic classification, and clinical association analysis, showing improved accuracy and reproducibility in microbiome studies.

From Data Curation to Risk Reporting: A Pipeline for Polygenic Risk Scores

This paper presents a pipeline for polygenic risk score calculation that includes data curation, statistical methods, and reporting, resulting in a curated database and interpretable reports for PRS analysis.

Developmental Dysregulation of Synaptic and Myelin-Related Genes in Frontal Cortex and Serum Infrared Spectroscopy Signature in the Valproic Acid Model of Autism

This study investigates molecular changes in the frontal cortex and serum of VPA-exposed rats, finding dysregulated myelin and synaptic genes and a serum FTIR spectroscopy biomarker for autism.

Low-pass whole genome sequencing is a reliable and cost-effective approach for copy number variant analysis in the clinical setting

This study validates low-pass whole genome sequencing as a reliable and cost-effective method for detecting copy number variants in clinical settings.

HRD-One: CLINICAL VALIDATION AND PERFORMANCE ASSESSMENT. Comparison between Myriad's myChoice(R), SOPHiA GENETICS SOPHiA Homologous Recombination Solution(R) and AmoyDx HRD Focus Panel(R)

HRD-One provides a reproducible HRD score with high concordance to myChoice(R) and identifies HRD in ovarian cancer samples with and without BRCA1/2 mutations.