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ConsensuSV—from the whole-genome sequencing data to the complete variant list

SUMMARY: The detection of the structural variants (SVs) using Illumina sequencing of human DNA is not an easy task. Multiple approaches have been proposed; however, all the methods have their limitations. In this article, we present ConsensuSV pipeline that aids the research in complex variant detec...

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Detalles Bibliográficos
Autores principales: Chiliński, Mateusz, Plewczynski, Dariusz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9750118/
https://www.ncbi.nlm.nih.gov/pubmed/36315072
http://dx.doi.org/10.1093/bioinformatics/btac709