Published November 25, 2016
| Version 0.3.1
Dataset
Open
ReMM score
Description
The Regulatory Mendelian Mutation (ReMM) score was created for relevance prediction of non-coding variations (SNVs and small InDels) in the human genome (hg19) in terms of Mendelian diseases.
Usage
The ReMM score is genome position wise (nucleotide changes are neglected). We precomputed all positions in the human genome (hg19 release) and stored the values in a tabix file (1-based). The scores ranging from 0 (non-deleterious) to 1 (deleterious).
If you want to use the ReMM score together with the Genomiser, please have a look at the Exomiser framework manual
ReMM score changelog
0.3.1:
- Bugfix of region chr17:79759050-81195210. Region is missing in older versions.
0.3:
- First official public version.
- Values for positions in training data are computed by cytoband-aware 10 fold cross-validation.
- Other position scores are compted by a generalized model of all training data.
- This version was used in the Genomiser publication (Smeley et.al. A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. AHJG. 2016)
Files
Files
(11.9 GB)
| Name | Size | Download all |
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md5:e658794c1e67266e69b4fe7926cd2574
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110 Bytes | Download |
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md5:5dd21718323e7919e18336cae14568fd
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11.9 GB | Download |
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md5:e9839b87e74cf9c57f0242a79ef8b120
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2.5 MB | Download |
Additional details
Related works
- Is documented by
- 10.1016/j.ajhg.2016.07.005 (DOI)
References
- Damian Smedley, Max Schubach, Julius OB Jacobsen, Sebastian Köhler, Tomasz Zemojtel, Malte Spielmann, Marten Jäger, Harry Hochheiser, Nicole L Washington, Julie A McMurry, Melissa A Haendel, Christopher J Mungall, Suzanna E Lewis, Tudor Groza, Giorgio Valentini, Peter N Robinson. (2016). A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. The American Journal of Human Genetics, 99(3), 595–606. http://doi.org/10.1016/j.ajhg.2016.07.005