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Rare/Low-frequency variation databases | Genome annotation

Rare/Low-frequency variation databases | Genome annotation Databases of genetic variation are important for our understanding of human population history and biology but also provide critical resources for the clinical interpretation of variants observed in patients who have rare Mendelian diseases. The filtering of candidate variants by frequency in unselected individuals is a key step in any pipeline for the discovery of causal variants in Mendelian disease patients, and the efficacy of such filtering depends on both the size and the ancestral diversity of the available reference data.
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