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Rare/Low-frequency variation databases | Genome annotation

Databases of genetic variation are important for our understanding of human population history and biology (Fu et al., 2013; The 1000 Genomes Project Consortium, 2015; Li and Durbin, 2011; Stoneking and Krause, 2011; MacArthur et al., 2012) but also provide critical resources for the clinical interpretation of variants observed in patients who have rare Mendelian diseases (Bamshad et al., 2011; MacArthur et al., 2014). 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. Source text: Lek et al., 2016.

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