ArticleGenome biology2021
PRINCESS: comprehensive detection of haplotype resolved SNVs, SVs, and methylation.
Article in Genome biology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
33 citing papers in PubMed.
- Mapping long-read sequences to a complete reference genome reveals uncaptured variants across the β-Globin cluster in Africans with sickle cell disease.HGG advances · 2026Article
- Cost-efficient long-read trio-barcoded adaptive sequencing improves rare disease diagnosis.Nature communications · 2026Article
- From Spatial Epigenomes to Clinical Diagnostics: Integrative Methylomics Across Scales and Modalities.International journal of molecular sciences · 2026Review
- Article
- Severus detects somatic structural variation and complex rearrangements in cancer genomes using long-read sequencing.Nature biotechnology · 2026Article
- NANOME: A Nextflow pipeline for haplotype-aware allele-specific consensus DNA methylation detection by nanopore long-read sequencing.bioRxiv : the preprint server for biology · 2025Article
- A Hitchhiker's Guide to long-read genomic analysis.Genome research · 2025Review
- Evolution of genome-wide methylation profiling technologies.Genome research · 2025Review
- Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition.Nature genetics · 2025Article
- SUMMER: an integrated nanopore sequencing pipeline for variants detection and clinical annotation on the human genome.Functional & integrative genomics · 2025Article
- The Great Genotyper: a graph-based method for population genotyping of small and structural variants.GigaScience · 2025Article
- Detection of mosaic and population-level structural variants with Sniffles2.Nature biotechnology · 2024Article
- Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci.Cell genomics · 2024Article
- Simultaneous de novo calling and phasing of genetic variants at chromosome-scale using NanoStrand-seq.Cell discovery · 2024Article
- MethPhaser: methylation-based long-read haplotype phasing of human genomes.Nature communications · 2024Article
- Adaptive functions of structural variants in human brain development.Science advances · 2024Article
- Closing the gap: Solving complex medically relevant genes at scale.medRxiv : the preprint server for health sciences · 2024Article
- HiPhase: jointly phasing small, structural, and tandem repeat variants from HiFi sequencing.Bioinformatics (Oxford, England) · 2024Article
- Utility of long-read sequencing for All of Us.Nature communications · 2024Article
- Genomic variant benchmark: if you cannot measure it, you cannot improve it.Genome biology · 2023Review
Corrections and comments
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Authors and funding
4 authors.
Funding
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.