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Chunk #13 — Uses of 1000 Genomes Project data in medical genetics

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An integrated map of genetic variation from 1,092 human genomes.
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Data from the 1000 Genomes Project are widely used to screen variants discovered in exome data from individuals with genetic disorders22 and in cancer genome projects23. The enhanced catalogue presented here improves the power of such screening. Moreover, it provides a ‘null expectation’ for the number of rare, low-frequency and common variants with different functional consequences typically found in randomly-sampled individuals from different populations.