Rahul Nayak
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Phased Human Genome Assembly !
The new publicly available assembly (PacBio HG00733) has the fewest gaps of any human genome assembly, with more than half of the genome contained in gapless sequence at least 27 Mb long. The primary contig assembly is 2.89 Gb long and consists of 865 contigs that were assembled with PacBio data generated with the company’s Sequel® System. Using the FALCON-Unzip assembler, maternal and paternal haplotypes were resolved over more than 80% of the genome. Maternal and paternal haplotype blocks were then further phased using Hi-C technology and the FALCON-Phase methoddeveloped in collaboration with Phase Genomics. The genome was then de novo scaffolded using Phase Genomics’ Proximo Hi-C platform, resulting in the first chromosome-scale diploid assembly of a single individual accomplished with only two technologies. More specific details about the assembly are included on the PacBio blog.
The data are available using NCBI accession IDs: BioProject: (PRJNA483067), assembly: [RBJD00000000] and sequence data (SRP155659).
Additional Resources
- Interactive map showcasing global initiatives underway to generate reference-quality human genome assemblies for diverse populations
- BioReport Podcast on the value of ethnic-specific reference genomes
- Nature Reviews Genetics paper from NHGRI: Prioritizing diversity in human genomics research
- Article in The Journal of Precision Medicine: “Minority Report – Ethnic Diversity and the Real Promise for Precision Medicine”
- Article in Bio-IT World: “Genomic Data Standards Are a Necessity”
- NHGRI Project Award: High Quality Human and Non-Human Primate Genome Assemblies
More details are available on the PacBio website:
- Blog post: Data Release: Highest-Quality, Most Contiguous Individual Human Genome Assembly to Date
- Blog post: For Reference-Grade Human Genome Assemblies, SMRT Sequencing Yields Optimal Results
- Webinar: Assembling High-Quality Human Reference Genomes for Global Populations
- FALCON-Phase press release and article preprint
- PacBio research focus webpage about Human Population Genetics
