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  • The performance of deleteriousness prediction scores for rare non-protein-changing single nucleotide variants in human genes

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Functional genomics
Communications
The performance of deleteriousness prediction scores for rare non-protein-changing single nucleotide variants in human genes

https://doi.org/10.1136/jmedgenet-2016-104369

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    Footnotes

    • Contributors XL designed the study and collected the annotation resources. CL performed the comparison. EB and XL supervised the study. XL and EB wrote the draft manuscript.

    • Funding This study was supported by the US National Institutes of Health (5RC2HL102419 and U54HG003273).

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.