Open Search provides researchers access to data on over 10,000 genomes sequenced by Human Longevity Inc – HLI (see paper). Here we provide access to a browser-based application to support efforts to understand human genetic diversity and empower researchers to quickly search through this genomic database. This database contains more than 200 million variants that are linked to ClinVar and other trusted annotation databases. The browser-based application provides:

• Simple query-based search
• Fast, robust, and powerful whole genome analysis
• Access to allele frequencies of 10,000 whole genomes
• Seamless links to many genome resources

Deep Sequencing of 10,000 Genomes – abstract

We report on the sequencing of 10,545 human genomes at 30x to 40x coverage with an emphasis on quality metrics and novel variant and sequence discovery. We find that 84% of an individual human genome can be sequenced confidently. This high-confidence region includes 91.5% of exon sequence and 95.2% of known pathogenic variant positions. We present the distribution of over 150 million single-nucleotide variants in the coding and noncoding genome. Each newly sequenced genome contributes an average of 8,579 novel variants. In addition, each genome carries on average 0.7 Mb of sequence that is not found in the main build of the hg38 reference genome. The density of this catalog of variation allowed us to construct high-resolution profiles that define genomic sites that are highly intolerant of genetic variation. These results indicate that the data generated by deep genome sequencing are of the quality necessary for clinical use.

Disclaimer

Simplify Genomics Inc is providing access to the genomic information that was generated by Human Longevity Inc (HLI) in the 10,000 genomes study. These data and results are provided as is for research purposes. Genome annotations were current at the time of publication of the paper and may have since changed. As such Simplify Genomics provides no warranties on the accuracy of the data hosted in HLI’s Open Search. 

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