Clinical validation of a single NGS targeted panel pipeline using the KAPA HyperChoice system for detection of germline, somatic and mitochondrial sequence and copy number variants

CONCLUSION: Results of the laboratory quality improvement study focused on a single NGS pipeline that includes both nuclear and mitochondrial genomes demonstrated utility in the clinical setting to assess a range of referral reasons, necessary due to the complex molecular etiology of human genetic disorders, while reducing costs and turnaround times.PMID:37542410 | DOI:10.1080/14737159.2023.2245747
Source: Expert Review of Molecular Diagnostics - Category: Laboratory Medicine Authors: Source Type: research