Article added to library!
Pubchase is a service of - free, open access, crowdsourced protocols repository. Explore protocols.
Sign in
Reset password
or connect with
By signing in you are agreeing to our
Terms Of Service and Privacy Policy
Feb 25, 2015
Nature Genetics Add free-link Cancel
We describe a new computational method for estimating the probability that a point mutation at each position in a genome will influence fitness. These 'fitness consequence' (fitCons) scores serve as evolution-based measures of potential genomic function. Our approach is to cluster genomic positions into groups exhibiting distinct 'fingerprints' on the basis of high-throughput functional genomic data, then to estimate a probability of fitness consequences for each group from associated patterns of genetic polymorphism and divergence. We have generated fitCons scores for three human cell types on the basis of public data from ENCODE. In comparison with conventional conservation scores, fitCons scores show considerably improved prediction power for cis regulatory elements. In addition, fitCons scores indicate that 4.2-7.5% of nucleotides in the human genome have influenced fitness since the human-chimpanzee divergence, and they suggest that recent evolutionary turnover has had limited impact on the functional content of the genome.

Downloading PDF to your library...

Uploading PDF...

PDF uploading

Delete tag:

The link you entered does not seem to be valid

Please make sure the link points to contains a valid shared_access_token