TT-Mars: structural variants assessment based on haplotype-resolved assemblies
Variant benchmarking is often performed by comparing a test callset to a gold standard set of variants. In repetitive regions of the genome, it may be difficult to establish what is the truth for a call, for example, when different alignment scoring metrics provide equally supported but different va...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
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BioMed Central Ltd
2022
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| Subjects: | |
| Online Access: | View Fulltext in Publisher |