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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...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9077962/ https://www.ncbi.nlm.nih.gov/pubmed/35524317 http://dx.doi.org/10.1186/s13059-022-02666-2 |