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Detecting genomic deletions from high-throughput sequence data with unsupervised learning

BACKGROUND: Structural variation (SV), which ranges from 50 bp to [Formula: see text]  3 Mb in size, is an important type of genetic variations. Deletion is a type of SV in which a part of a chromosome or a sequence of DNA is lost during DNA replication. Three types of signals, including discordant...

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Detalles Bibliográficos
Autores principales: Li, Xin, Wu, Yufeng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9881243/
https://www.ncbi.nlm.nih.gov/pubmed/36707775
http://dx.doi.org/10.1186/s12859-023-05139-w