Data presentation and annotation software for genetic copy number analysis.

摘要

Software is disclosed for displaying the results of the genetic analysis of a (human) patient sample obtained from a SNP (single nucleotide polymorphism, point mutation) array or a CGH (comparative genome hybridisation) array in order to visualise the copy number at individual genetic loci to facilitate the visualisation of regions of unusual genetic copy number such that DNA anomalies may be more easily observed. The method comprises obtaining SNP or CGH array data for the sample and plotting log-ratio measurements to represent deviation of patient's copy number state from the norm, for instance: regions of LOH (loss of heterozygosity) or gain/loss of copy number are superimposed on a diagram representing their chromosomal position. Preferably the software comprises databases for annotation of genetic loci with details of clinical disease association, gene/protein function and known SNP or CGH copy-number variants.