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Article

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

Genome biology - 14 Sept 2021

Mahmoud Medhat, Doddapaneni Harshavardhan, Timp Winston, Sedlazeck Fritz J

Abstract excerpt

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...

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Share to Charcot-Marie-Tooth Disease
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34521442
DOI: 10.1186/s13059-021-02486-w
PMCID: PMC8442460

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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