A hybrid approach for de novo human genome sequence assembly and phasing.
basic_science · Level V
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- Record sourced from PubMed, PMID 27159086.
- Also identified by DOI 10.1038/nmeth.3865 and PMC identifier 4927370.
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Abstract
Despite tremendous progress in genome sequencing, the basic goal of producing a phased (haplotype-resolved) genome sequence with end-to-end contiguity for each chromosome at reasonable cost and effort is still unrealized. In this study, we describe an approach to performing de novo genome assembly and experimental phasing by integrating the data from Illumina short-read sequencing, 10X Genomics linked-read sequencing, and BioNano Genomics genome mapping to yield a high-quality, phased, de novo assembled human genome.
Medical subject headings
- Chromosome Mapping
- Genome, Human
- Genomics
- Haplotypes
- High-Throughput Nucleotide Sequencing