AMLVaran: a software approach to implement variant analysis of targeted NGS sequencing data in an oncological care setting.

ABSTRACT:

Background

Next-Generation Sequencing (NGS) enables large-scale and cost-effective sequencing of genetic samples in order to detect genetic variants. After successful use in research-oriented projects, NGS is now entering clinical practice. Consequently, variant analysis is increasingly important to facilitate a better understanding of disease entities and prognoses. Furthermore, variant calling allows to adapt and optimize specific treatments of individual patients, and thus is an integral part of personalized medicine.However, the analysis of NGS data typically requires a number of complex bioinformatics processing steps. A flexible and reliable software that combines the variant analysis process with a simple, user-friendly interface is therefore highly desirable, but still lack

SUBMITTER: Wunsch C 

PROVIDER: S-EPMC7001226 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature