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

1Citations
Citations of this article
38Readers
Mendeley users who have this article in their library.

This artice is free to access.

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 novel findings in biology or medicine. PRINCESS is a structured workflow that takes raw sequence reads and generates a fully phased SNV, SV, and methylation call set within a few hours. PRINCESS achieves high accuracy and long phasing even on low coverage datasets and can resolve repetitive, complex medical relevant genes that often escape detection. PRINCESS is publicly available at https://github.com/MeHelmy/princess under the MIT license.

Cite

CITATION STYLE

APA

Mahmoud, M., Doddapaneni, H., Timp, W., & Sedlazeck, F. J. (2021). PRINCESS: comprehensive detection of haplotype resolved SNVs, SVs, and methylation. Genome Biology, 22(1). https://doi.org/10.1186/s13059-021-02486-w

Register to see more suggestions

Mendeley helps you to discover research relevant for your work.

Already have an account?

Save time finding and organizing research with Mendeley

Sign up for free