Exploration of Tools for the Interpretation of Human Non-Coding Variants.
5′UTR
mutation intolerance
non-coding variants
splicing prediction
variant prioritization
whole genome sequencing
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
26 Oct 2022
26 Oct 2022
Historique:
received:
23
09
2022
revised:
17
10
2022
accepted:
23
10
2022
entrez:
11
11
2022
pubmed:
12
11
2022
medline:
15
11
2022
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 36361767
pii: ijms232112977
doi: 10.3390/ijms232112977
pmc: PMC9654743
pii:
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Italian Ministry of Health
ID : RF-2018-12366314
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