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PRINCESS: comprehensive detection of haplotype resolved SNVs, SVs, and methylation
Long-read sequencing has been shown to have advantages in structural variation (SV) detection and methylation calling. Many studies focus either on SV, methylation, or phasing of SNV; however, only the combination of variants provides a comprehensive insight into the sample and thus enables novel fi...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8442460/ https://www.ncbi.nlm.nih.gov/pubmed/34521442 http://dx.doi.org/10.1186/s13059-021-02486-w |