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

• Published in: Genome Biology Vol. 22; no. 1; p. 268
• Main Authors: Mahmoud, Medhat, Doddapaneni, Harshavardhan, Timp, Winston, Sedlazeck, Fritz J
• Format: Journal Article
• Language: English
• Published: England BioMed Central 14-09-2021; BMC
• Subjects: Accuracy; Charcot-Marie-Tooth Disease - genetics; DNA Methylation; Genetic Variation; Genome, Human; Haplotypes; High-Throughput Nucleotide Sequencing - methods; Humans; Method; Methylation; Oxford Nanopore; PacBio; Phasing; Sequence Analysis, DNA - methods; Single-nucleotide variant; Software; Structural variant; Structural variant; Oxford Nanopore; Single-nucleotide variant; Methylation; PacBio; Phasing
• ISSN: 1474-760X; 1474-7596; 1474-760X
• DOI: 10.1186/s13059-021-02486-w

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.