Calculating the statistical significance of rare variants causal for Mendelian and complex disorders
Abstract Background With the expanding use of next-gen sequencing (NGS) to diagnose the thousands of rare Mendelian genetic diseases, it is critical to be able to interpret individual DNA variation. To calculate the significance of finding a rare protein-altering variant in a given gene, one must kn...
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| Format: | Book |
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BMC,
2018-06-01T00:00:00Z.
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A1234.567 |
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