We matched these with the CNVs and further annotated them according to the Toronto Database of Variation.
Altshuler has worked as a lead investigator in major public-private partnerships that have built on the Human Genome Project to create public databases of variations in the human genome sequence.
Of the total 11,138 variations, as many as 10,283 (92.32%) are overlapping with known structural variations in DGV (Database of Genomic Variations, a curated catalog of human genomic structural variations) [ 46].
In addition, Supplementary Figure 3 places each of these de novo CNVs in a more global context by showing all of the cataloged structural variations from the Database of Genomic Variations (DGV).
Given the myriad possible variations in the estimated 24,000 genes in the human genome, it would be useful to have standard criteria for databases of variation.
Summary: Biological sequence variants are commonly represented in scientific literature, clinical reports and databases of variation using the mutation nomenclature guidelines endorsed by the Human Genome Variation Society HGVSS).
As the establishment of reference databases of variation continues to expand, new variants are being found and the classification of variants into pathogenic versus nonpathogenic is continuing to change.
For the management of such findings, it is of extraordinary help the development of public and trustable databases of variation on normal individuals, such as the database of genome variants (DGV) and the initiatives to catalogue normal and pathological variation from the ISCA and DECIPHER consortia.
> -wrap-foot> This latter point stresses the potential importance of a single copy marker approach, as databases of variation between these or other single copy markers could be implemented in a manner very similar to multilocus sequence typing (MLST) to answer questions of linkage and recombination (Maiden et al. 1998).
The Pharmacogenomics Knowledgebase (PharmGKB) is a database of genetic variations, annotations, drug pathways, and their relationship with drug response [11].
