ReMM Score
The Regulatory Mendelian Mutation (ReMM) score was created for relevance prediction of non-coding variations (SNVs and small InDels) in the human genome (hg19/hg38) in terms of Mendelian diseases.
Website
We have an external website for scoring positions, ranges, and VCF files. It contains an API and UCSC tracks are available. Please visit https://remm.bihealth.org. We recommend this as a major source for ReMM.
Usage
The ReMM score is genome position wise (nucleotide changes are neglected). We precomputed all positions in the human genome (hg19 and hg38 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
Download
- Changelog: remm_changelog.txt
Version 0.4:
- Tabix file hg38: ReMM.v0.4.hg38.tsv.gz (md5:2f8c8fcc75ea29f6798621d0446fe194)
- Tabix index file hg38: ReMM.v0.4.hg38.tsv.gz.tbi (md5:c477b123abbe72c4aa66bf3abc18d9ab)
- Tabix file hg19: ReMM.v0.4.hg19.tsv.gz (md5:ff7b71bb1711eaa4864c1cfacadb2cbe)
- Tabix index file hg19: ReMM.v0.4.hg19.tsv.gz.tbi (md5:baf5ec990123343ba3ad58014a2b109d)
Version 0.3.1.post1:
- Tabix file hg38: ReMM.v0.3.1.post1.hg38.tsv.gz
- Tabix index file hg38: ReMM.v0.3.1.post1.hg38.tsv.gz.tbi
- Tabix file hg19: ReMM.v0.3.1.post1.hg19.tsv.gz
- Tabix index file hg19: ReMM.v0.3.1.post1.hg19.tsv.gz.tbi
- MD5 checksum: ReMM.v0.3.1.post1.md5
Version 0.3.1:
- Tabix file: ReMM.v0.3.1.tsv.gz
- Tabix index file: ReMM.v0.3.1.tsv.gz.tbi
- MD5 checksum: ReMM.v0.3.1.md5
Version 0.3:
- Tabix file: ReMM.v0.3.tsv.gz
- Tabix index file: ReMM.v0.3.tsv.gz.tbi
Citation
If you you the ReMM Score please cite the following:
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