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Exploration of Tools for the Interpretation of Human Non-Coding Variants

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 interpretat...

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Detalles Bibliográficos
Autores principales: Tabarini, Nicole, Biagi, Elena, Uva, Paolo, Iovino, Emanuela, Pippucci, Tommaso, Seri, Marco, Cavalli, Andrea, Ceccherini, Isabella, Rusmini, Marta, Viti, Federica
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9654743/
https://www.ncbi.nlm.nih.gov/pubmed/36361767
http://dx.doi.org/10.3390/ijms232112977