COMPUTER IMPLEMENTED METHOD FOR IDENTIFYING REGULATORY REGIONS OR REGULATORY VARIATIONS

摘要

The present invention relates in one aspect to a method and a computer program of identifying a regulatory region or a regulatory variation in a reference genome of a species, comprising obtaining sequence data of DNA sequences of the reference genome, defining reference regions of interest in the sequence data, identifying orthologous regions of at least one further species corresponding to the reference regions, analyzing the identified orthologous regions with regard to common patterns of regulatory elements, classifying the reference regions based on the analysis of the orthologous regions, and rating each reference region in accordance with its corresponding classification. With the method according to the first aspect of the invention, a phylogenetic module complexity analysis (PMC analysis) based on modular organization of genomic regions analyzed in several vertebrate species can be established as a reliable tool to predict functionality for example of non-coding SNP at transcriptional level and particularly to identify regulatory regions in the genome.