MsPAC: a tool for haplotype-phased structural variant detection.
basic_science · Level V
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- Record sourced from PubMed, PMID 31397844.
- Also identified by DOI 10.1093/bioinformatics/btz618 and PMC identifier 7523683.
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Abstract
While next-generation sequencing (NGS) has dramatically increased the availability of genomic data, phased genome assembly and structural variant (SV) analyses are limited by NGS read lengths. Long-read sequencing from Pacific Biosciences and NGS barcoding from 10x Genomics hold the potential for far more comprehensive views of individual genomes. Here, we present MsPAC, a tool that combines both technologies to partition reads, assemble haplotypes (via existing software) and convert assemblies into high-quality, phased SV predictions. MsPAC represents a framework for haplotype-resolved SV calls that moves one step closer to fully resolved, diploid genomes. https://github.com/oscarlr/MsPAC. Supplementary data are available at Bioinformatics online.
Medical subject headings
- Genomics
- High-Throughput Nucleotide Sequencing