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Genomics

Scoring all human mutations

Nature Methods volume 11, page 368 (2014) | Download Citation

Combining 63 annotations provides a unified score for the potential deleteriousness of every possible human mutation.

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References

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    et al. A general framework for estimating the relative pathogenicity of human genetic variants. Nat. Genetics 46, 310–315 (2014).

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DOI

https://doi.org/10.1038/nmeth.2915

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  1. Search for Nicole Rusk in:

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