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Article

Variants of uncertain significance in the era of next-generation sequencing.

Journal of the American Association of Nurse Practitioners - 1 Aug 2022

Levkova Mariya, Stoyanova Milena, Benkova-Petrova Miroslava, Georgieva Miglena, Angelova Lyudmila

Abstract excerpt

ABSTRACT: Next-generation sequencing (NGS) is now widely used in diagnosing rare diseases. However, it has some limitations, such as variants of uncertain significance (VUS). This can present difficulties even for nurse practitioners involved in clinical genetics. We present three cases from our clinical practice: two targeted panel testing and one exome sequencing. Whole blood samples were collected and sent for...

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PMID: 35731603
DOI: 10.1097/JXX.0000000000000745

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