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. Author manuscript; available in PMC: 2019 Jan 1.
Published in final edited form as: Hum Genet. 2017 Dec 29;137(1):15–30. doi: 10.1007/s00439-017-1861-0

Table 1.

Comparative genomics data to infer functionally significant regulatory elements

Program Mechanisms Target Regulatory Elements URL
fitCons Compares the selective pressure consequences to indicate potential for genomic function Any Non-Coding Genetic Variant http://compgen.cshl.edu/fitCons/
GERP++ Compares p-values in order to predict genetic conservation in terms of rejected substitution (RS), which is the difference between neutral rates of substitution and the observed rate as estimated by maximum likelihood . TF Binding Sites, Promoters, Enhancers, Silencers http://mendel.stanford.edu/SidowLab/downloads/gerp/index.html
Phastcons/PhyoP Computes conservation or acceleration p-values based on alignments with respect to a neutral model of evolution TF Binding Sites, Promoters, Enhancers, Silencers http://compgen.cshl.edu/phast/index.php
SiPHY Models biased nucleotide substitutions and characterizes substitution patterns from sequence alignments TF Binding Sites, Promoters, Enhancers, Silencers http://portals.broadinstitute.org/genome_bio/siphy/
dbPSHP Combines data from over 15,000 loci from publications and 15 statistical terms to identify genetic regions with potential positive selection Any Single Nucleotide Variant http://jjwanglab.org/dbpshp