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

TitlePRINCESS: comprehensive detection of haplotype resolved SNVs, SVs, and methylation.
Publication TypeJournal Article
Year of Publication2021
AuthorsMahmoud, M, Doddapaneni, H, Timp, W, Sedlazeck, FJ
JournalGenome Biol
Date Published2021 Sep 14
KeywordsCharcot-Marie-Tooth Disease, DNA Methylation, Genetic Variation, Genome, Human, Haplotypes, High-Throughput Nucleotide Sequencing, Humans, Sequence Analysis, DNA, Software

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 under the MIT license.

Alternate JournalGenome Biol
PubMed ID34521442
PubMed Central IDPMC8442460
Grant ListR01 HG009190 / HG / NHGRI NIH HHS / United States
UM1 HG008898 / HG / NHGRI NIH HHS / United States

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