Summary: fitCons score predicts the fraction of genomic positions belonging to a specific function class (defined by epigenomic "fingerprint") that are under selective pressure. Scores range from 0 to 1, with a larger score indicating a higher proportion of nucleic sites of the functional class the genomic position belong to are under selective pressure, therefore more likely to be functional important. Integrated (i6) scores are integrated across three cell types (GM12878, H1-hESC and HUVEC). More details can be found in doi:10.1038/ng.3196.

Estimation of 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” based on 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 based on public data from ENCODE. Compared 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.

  • reference_genome: hg19/genomes/GATK_ResourceBundle_5777_b37_phiX174


id type default annotation description histogram range
fc_i6_score float


probability that a point mutation at each position in a genome will influence fitness HISTOGRAM FOR fc_i6_score [0.000, 0.840]


Filename Size md5
fc-i6.bedGraph.gz 104.7 MB 6dc0d7ae9e8a8e159a94d6aa9ea61ee8
fc-i6.bedGraph.gz.dvc 90.0 B db1f9700700e424b0f9427afd8e7ab00
fc-i6.bedGraph.gz.tbi 462.71 KB 5ec4619d3a4ef2680d3f9024837c3ce9
fc-i6.bedGraph.gz.tbi.dvc 91.0 B 33a5e4205f399fda463d6315381633e1
genomic_resource.yaml 2.41 KB 79b1d719922c8ac6e3a2152a9afdbd78