What is DGV gold?
What is DGV gold?
DGV Gold Standard Variants (blue=Gain; red=Loss; brown=Gain+Loss) This track contains a curated set of variants from a select number of studies in DGV. High resolution and high quality studies were evaluated for accuracy and sensitivity and included if they passed strict quality filters.
What is DGV genetics?
DGV aims to catalogue the highest quality SV described in the literature in a format accessible to medical geneticists and molecular biologists alike.
What is DGV database?
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).
What does DGV stand for?
DGV
| Acronym | Definition |
|---|---|
| DGV | Deutschen Golf Verbandes (German: German Golf Association) |
| DGV | Doppler Global Velocimetry |
| DGV | Database of Genomic Variants |
| DGV | Domaine des Gardiens de la Vallée (French: Area of the Guardians of the Valley) |
What is database of genomic variants?
The Database of Genomic Variants archive (DGVa) is a repository that provides archiving, accessioning and distribution of publicly available genomic structural variants, in all species.
What are variants in genetics?
(VAYR-ee-unt) An alteration in the most common DNA nucleotide sequence. The term variant can be used to describe an alteration that may be benign, pathogenic, or of unknown significance. The term variant is increasingly being used in place of the term mutation.
How do you classify variants?
The American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG-AMP) system for variant classification is score based with five classes: benign, likely benign, variant of unknown significance (VUS), likely pathogenic, and pathogenic.
How do you know if a variant is pathogenic?
These criteria include the following attributes:
- the frequency of the variant in affected and unaffected individuals.
- the segregation of the variant within families.
- whether the variant is a new mutation in an individual affected by a highly penetrant condition.
- functional characteristics of the variant.
How do you read variants?
Variants are usually detected by reading the DNA code, a method called DNA sequencing. A proper report always contains the variant described on the DNA level. In addition, a report usually contains a description of the predicted consequence of the variant on the protein, rarely the consequence on RNA.