PRINCESS: comprehensive detection of haplotype resolved SNVs, SVs, and methylation

PRINCESS: comprehensive detection of haplotype resolved SNVs, SVs, and methylation

Abstract 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...

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Bibliographic Details
Main Authors: Medhat Mahmoud, Harshavardhan Doddapaneni, Winston Timp, Fritz J. Sedlazeck
Format: Article
Language:English
Published: BMC 2021-09-01
Series:Genome Biology
Subjects:
Structural variant
Single-nucleotide variant
Methylation
Phasing
Oxford Nanopore
PacBio
Online Access:https://doi.org/10.1186/s13059-021-02486-w

Internet

https://doi.org/10.1186/s13059-021-02486-w

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