The Human Genome Project, (completed from 1990 – 2003, for an estimated cost of $2.7 billion), gave us the ability to read nature’s complete genetic blueprint for a human being.¹ The finished sequence produced by the Human Genome Project covers about 99% of the human genome’s gene containing regions, sequenced to an accuracy of 99.99%.² The current version of the human reference genome assembly released by the Genome Reference Consortium (GRCh38) represents the chromosomes of the human genome as a mosaic haploid sequence, derived from the combined sequencing data of more than 50 individuals. New technologies are being employed in an effort to resolve mis-assemblies, sequence errors, gaps and haplotypes in this reference assembly. Data from individuals from different ethnic populations are also being integrated to better understand human genetic diversity, and expand the promise of precision medicine to people of all ethnicities.

In October 2018, PacBio and Phase Genomics collaborated to produce the most contiguous diploid human genome assembly of a single individual (a Puerto Rican female) to date. The assembly (PacBio HG00733) has the fewest gaps of any human genome assembly, and represents the nearly complete DNA sequence from all 46 chromosomes inherited from both parents. The genome was de novo scaffolded using Phase Genomics’ Proximo^TM Hi-C platform, resulting in the first chromosome-scale diploid assembly (or “platinum” genome”) of a single individual accomplished with only two technologies.³

Learn about FALCON-Phase, and how it was used to combine PacBio long-read and Hi-C data to produce the most contiguous diploid human genome assembly.