Natasa Marcun Varda

Pivotal Role of High Sensitivity Variant Calls and Confirmation Methods for Next-Generation Sequencing Findings: A Case Report

Mario Gorenjak, Gregor Jezernik, Katja Repnik, Natasa Marcun Varda & Uroš Potočnik · Annual Research & Review in Biology · 2018

Aims: The aim of this case report is to demonstrate the importance of prioritization of sensitivity over specificity, coupled with additional confirmation by using standard methods. Next-generation sequencing has revolutionized genetic research as it has allowed sequencing of hum...