Detection of CNVs through whole genome sequencing in patients with PAH

Presented at PVRI 2026 Congress by Monica Mora, Institute of Medical & Molecular Genetics (INGEMM)

Summary

The presentation explores the detection of copy number variants in patients with PAH through whole genome sequencing. It outlines the study's objectives, methodology, and the analysis of 158 individuals. The findings highlight the significance of identifying genetic variants, validating them, and classifying them as pathogenic or uncertain. The study underscores the role of whole genome sequencing in enhancing diagnostic capabilities and addresses challenges in molecular diagnosis.

Generated by AI, edited by PVRI