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

Abstract Background Structural variation (SV), which ranges from 50 bp to $$\sim$$ ∼  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 r...

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Bibliographic Details
Main Authors: Xin Li, Yufeng Wu
Format: Article
Language:English
Published: BMC 2023-01-01
Series:BMC Bioinformatics
Subjects:
Online Access:https://doi.org/10.1186/s12859-023-05139-w

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