Tute Genomics said today a company database containing 8.5 billion annotations of genetic variants will be made publicly accessible through Google Genomics, through a partnership with Google as well as Xiaoming Liu, Ph.D., and his team at the University of Texas, Houston Health Science Center’s Human Genetics Center.
According to its main page on Google Genomics, the Tute Genomics Annotation database consists of a curated collection of functional annotations for all possible single nucleotide variants (SNVs) in the human genome (hg19 build).
Data sources include clinical annotations from the National Center for Biotechnology Information’s ClinVar database, and the genome-wide association studies (GWAS) catalog; allele frequencies from the 1000 Genomes Project and National Heart, Lung, and Blood Institute Exome Sequencing Project (NHLBI-ESP) 6500 exomes.
Additional data sources include the Exome Aggregation Consortium 60,000 samples gene and transcript model annotations, such as amino acid and protein substitutions and the functional consequence of exonic variants. Additionally, the database includes conservation and evolutionary scores from tools like SIFT, PolyPhen2, PhyloP, MutationTaster, MutationAssessor, FATHMM, MetaLR, and MetaSVM.
Finally, the database contains Tute-developed scoring system to predict whether a SNP or indel is likely to be associated with Mendelian phenotypes. According to Tute Genomics, the clinical genome interpretation platform is designed to assist researchers in identifying disease genes and biomarkers, as well as assist clinicians/labs in performing genetic diagnosis and personalized therapeutics. Tute draws on expertise that developed the genome annotation and interpretation software ANNOVAR.
“The time is coming when genome sequencing will be part of routine clinical care, and open access to genetic variant databases is a necessary step in order to accelerate progress towards precision medicine,” Tute Genomics CEO Reid Robison, M.D., M.B.A., said in a statement.