phasebook

phasebook assembles diploid genomes de novo from long-read sequencing data to reconstruct phased haplotypes for analysis of genetic diversity and individual-specific variation.

Key Features:

• Haplotype-Aware Assembly: Performs haplotype-aware assembly to reconstruct phased haplotypes of diploid genomes.
• De Novo Approach: Conducts de novo assembly rather than relying on a reference to reduce reference-induced bias in reconstructed sequences.
• Long-Read Sequencing Compatibility: Leverages long-read sequencing technologies to improve contiguity and resolve complex genomic regions.

Scientific Applications:

• Genomics: Produces haplotype-resolved assemblies for studying genetic diversity, trait inheritance, and complex genomic regions.
• Precision Medicine: Identifies individual-specific variants and haplotypes relevant to genetic disorders and individualized treatment plans.

Methodology:

Performs de novo, haplotype-aware assembly from long reads while managing assembly errors and maintaining high contiguity to achieve high haplotype coverage.