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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...

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Detalles Bibliográficos
Autores principales: Mahmoud, Medhat, Doddapaneni, Harshavardhan, Timp, Winston, Sedlazeck, Fritz J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
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