Data released on October 10, 2016
Since the completion of the Human Genome Project in 2003 it has been estimated that over 200,000 individual whole human genomes have been sequenced; a stunning accomplishment in such a short period of time. However, most of these were sequenced without experimental haplotype data and as such are missing an important aspect of genome biology. In addition, much of the genomic data generated is not available to the public and lacks phenotypic information.
As part of the Personal Genome Project (PGP), 184 participants’ blood samples were collected and processed with Complete Genomics’ Long Fragment Read (LFR) technology. Here we report the results for the experimental whole genome haplotyping and sequencing of these samples to an average read coverage depth of 100X of 114 of these samples. This level of coverage is approximately 3 fold higher than the read coverage applied to most whole human genome assemblies and was done to ensure the highest quality results. Currently only 114 genomes from this data set are freely available on GigaDB and are associated with rich phenotypic data provided in this manuscript. It is our expectation that all 184 participants’ genomes will be made freely available in the near future, as soon as the individuals concerned have reviewed their own genomes prior to release in accordance with the PGP agreement.
Twenty genomes were sequenced at least two times using independently made LFR barcoded libraries for reproducibility analyses. Additionally, 7 genomes were also sequenced using Complete Genomics’ standard non-barcoded library process.
These genomes represent a unique source of haplotype and phenotype data for the scientific community. In addition, we report 2.6 million high quality rare variants not previously identified in dbSNP or Phase 3 1000 Genomes Project (1KG) data. The data presented here should help expand our understanding of the human genome evolution and functioning.