MsPAC

MsPAC integrates Pacific Biosciences long-read sequencing and 10x Genomics NGS barcoding to partition reads, assemble haplotypes, and produce haplotype-resolved structural variant (SV) predictions for diploid genome analysis.

Key Features:

• Integration of sequencing technologies: Integrates Pacific Biosciences long-read sequencing with 10x Genomics NGS barcoding for combined analysis.
• Read partitioning: Partitions reads to enable haplotype-specific assembly.
• Haplotype assembly: Assembles haplotypes using existing software frameworks.
• Phased structural variant prediction: Transforms haplotype assemblies into high-quality, phased structural variant predictions.
• Long-read resolution: Leverages long reads to span large genomic regions and resolve complex variants.
• NGS barcoding linkage: Utilizes 10x Genomics barcodes to provide high-throughput linkage information for phasing.
• Haplotype-resolved SV calls: Produces haplotype-resolved SV calls suitable for diploid genome analyses.

Scientific Applications:

• Haplotype-resolved SV detection: Enables detection and phasing of structural variants in diploid genomes.
• Genomics research: Supports comprehensive structural variant analyses in genomics studies.
• Personalized medicine: Facilitates identification of structural variants relevant to disease susceptibility and clinical research.
• Evolutionary biology: Aids studies of genetic variation and phenotypic diversity in evolutionary analyses.

Methodology:

Combines Pacific Biosciences long reads with 10x Genomics barcodes, partitions reads, assembles haplotypes with existing software frameworks, and converts assemblies into phased structural variant predictions.