DNAscan2: a versatile, scalable, and user-friendly analysis pipeline for human next-generation sequencing data.

ABSTRACT:

Summary

The current widespread adoption of next-generation sequencing (NGS) in all branches of basic research and clinical genetics fields means that users with highly variable informatics skills, computing facilities and application purposes need to process, analyse, and interpret NGS data. In this landscape, versatility, scalability, and user-friendliness are key characteristics for an NGS analysis software. We developed DNAscan2, a highly flexible, end-to-end pipeline for the analysis of NGS data, which (i) can be used for the detection of multiple variant types, including SNVs, small indels, transposable elements, short tandem repeats, and other large structural variants; (ii) covers all standard steps of NGS analysis, from quality control of raw data and genome alignment to va

SUBMITTER: Marriott H 

PROVIDER: S-EPMC10112953 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature