Besides DGV, DGVa and DECIPHER, there is another database that lists structural DNA variations: it’s dbVar, which we expect to be the most comprehensive one, based on its illustrious trademark: NCBI. What is a structural variation? Before going on, we just want to recall here that a genomic structural variation or variant is usually defined
There is an online database of which aim is to collect all DNA structural variations which can be considered as normal polymorphisms in humans (DGV – Database of Genomic Variants). The consultation of this database is particularly important because it allows to know whether a particular CNV (copy number variation) can be pathogenic or not.
ExAC is acronym for Exome Aggregation Consortium, which is a coalition of investigators seeking to aggregate and harmonize exome sequencing data from a wide variety of large-scale sequencing projects. As such, ExAC is also the name of the database that the consortium is feeding. In the ExAC database, which is currently in its beta version,
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