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Variant-disease association databases | Genome annotation

The invention of high throughput sequencing technologies has led to the discoveries of hundreds of thousands of genetic variants associated with thousands of human diseases. Many of these genetic variants are located outside the protein coding regions, and as such, it is challenging to interpret the function of these genetic variants by traditional genetic approaches.

Source text:
(Ma et al., 2015) Disease-associated variants in different categories of disease located in distinct regulatory elements. BMC Genomics.

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