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