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- Title
Exploration of Tools for the Interpretation of Human Non-Coding Variants.
- Authors
Tabarini, Nicole; Biagi, Elena; Uva, Paolo; Iovino, Emanuela; Pippucci, Tommaso; Seri, Marco; Cavalli, Andrea; Ceccherini, Isabella; Rusmini, Marta; Viti, Federica
- Abstract
The advent of Whole Genome Sequencing (WGS) broadened the genetic variation detection range, revealing the presence of variants even in non-coding regions of the genome, which would have been missed using targeted approaches. One of the most challenging issues in WGS analysis regards the interpretation of annotated variants. This review focuses on tools suitable for the functional annotation of variants falling into non-coding regions. It couples the description of non-coding genomic areas with the results and performance of existing tools for a functional interpretation of the effect of variants in these regions. Tools were tested in a controlled genomic scenario, representing the ground-truth and allowing us to determine software performance.
- Subjects
WHOLE genome sequencing; GENETIC variation
- Publication
International Journal of Molecular Sciences, 2022, Vol 23, Issue 21, p12977
- ISSN
1661-6596
- Publication type
Article
- DOI
10.3390/ijms232112977