Exploration of Tools for the Interpretation of Human Non-Coding Variants.
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ABSTRACT:
SUBMITTER: Tabarini N
PROVIDER: S-EPMC9654743 | biostudies-literature | 2022 Oct
REPOSITORIES: biostudies-literature
Publications
Exploration of Tools for the Interpretation of Human Non-Coding Variants.
Tabarini Nicole N Biagi Elena E Uva Paolo P Iovino Emanuela E Pippucci Tommaso T Seri Marco M Cavalli Andrea A Ceccherini Isabella I Rusmini Marta M Viti Federica F
International journal of molecular sciences 20221026 21
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 ...[more]
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Project description:This SuperSeries is composed of the SubSeries listed below.
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