Recommendations for bioinformatics in clinical practice.

ABSTRACT:

Background

Next-generation sequencing (NGS) is well established in clinical diagnostics, and whole-genome sequencing (WGS) is increasingly becoming the method of choice, as a result of lower prices and robust comprehensive data. While guidelines exist for variant interpretation and laboratory quality considerations, there remains a need for standardised bioinformatics practices to ensure clinical consensus, accuracy, reproducibility and comparability.

Methods

This article presents consensus recommendations developed by 13 clinical bioinformatics units participating in the Nordic Alliance for Clinical Genomics (NACG) by expert bioinformaticians working in clinical production. The recommendations are based on clinical practice and focus on analysis types, test and validation,

SUBMITTER: Lavrichenko K 

PROVIDER: S-EPMC12535132 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature