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Fig. 1 | Genome Biology

Fig. 1

From: OMSV enables accurate and comprehensive identification of large structural variations from nanochannel-based single-molecule optical maps

Fig. 1

Underlying concepts of OMSV. a Different types of genetic variations and their idealized appearance patterns on optical maps. Real optical-mapping data contain various types of errors that make these patterns less apparent. Inversions are shown as an example type of complex SVs, while OMSV can also detect translocations and copy number variations. b The overall OMSV pipeline for identifying SVs from optical maps. Optical maps from a study sample are aligned to the reference map using two different aligners. Their results are integrated to form a single list of consensus alignments, which are then passed to three SV-calling modules to identify different types of SVs. SV, structural variation

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Genome Biology

ISSN: 1474-760X

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