Blocks and Haplotypes
Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.]
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Abstract | Spontaneously arising (de novo) genetic variants are important in human disease, yet every individual carries many such variants, with a median of 1 de novo variant affecting the protein-coding portion of the genome. A recently described mutational model provides a powerful framework for the robust statistical evaluation of such coding variants, enabling the interpretation of de novo variation in human disease. Here we describe a new open-source software package, denovolyzeR, that implements this model and provides tools for the analysis of de novo coding sequence variants. © 2015 by John Wiley & Sons, Inc. |
Year of Publication | 2015
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Journal | Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.]
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Volume | 87
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Pages | 7.25.1-7.25.15
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Date Published | 2015/10/06
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ISSN | 1934-8266
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URL | |
DOI | 10.1002/0471142905.hg0725s87
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