Mutation Rate Browser
The Mutation Rate Browser lets you explore patterns of fine-scale variability in human germline mutation rates.
Visualizing rates
We have created a preconfigured UCSC Genome Browser track for visualizing these rates alongside other genomic data.
Download the data
The raw data used to create these tracks can be downloaded at http://mutation.sph.umich.edu/hg19/. Tracks are only available for assembly GRCh37 (hg19) of the human reference genome, but can be converted to coordinates in other assemblies using the UCSC liftOver utility. Tracks are in a compressed wiggle (BigWig) format. Because these files are quite large (~50GB total), we recommend using a download manager such as wget or curl.
Citation
Carlson, J. et al. Extremely rare variants reveal patterns of germline mutation rate heterogeneity in humans. Nat. Commun. 9, 3753 (2018). doi:10.1038/s41467-018-05936-5
Extras
Mr. Eel is a lightweight tool we designed to quickly annotate a list of single-nucleotide variants with their estimated mutation rates.
This utility presently annotates using only the 7-mer sequence context, not accounting for local genomic features as implemented in the Genome Browser tracks above (though this feature is under development).
Author
Jedidiah Carlson (Twitter/GitHub).
