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Reference genomes

Reference genomes is a consensus sequence derived from (mostly) a lot of individuals of the same species. They are the effort of usually big consortia. To achieve this, usually all kinds of types of sequencing data (BAC, YAC, Cosmids, ESTs, RefSeq genes, NGS data ...) are being gathered and merged together. A certain reference genome is also referred to by 'assembly' or 'build'. Note: a reference genome sequence is -as a rule- always represented as a haplotype.

Download links to reference genomes

Indexing reference genomes for NGS data analysis

Individual's genomes

Personal genomics require the sequencing of a (part of) an individual's genome. Assembly of this sequencing data can be assisted by the reference genome of the species. Once done, information as to where the individual's genome differ from the reference can be extracted. These differences, consisting of SNPs, structural differences (i.e. large gaps, transposed large parts, inversions,...) ,..., may reveal information to why the phenotype of the individual differs from the average.