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The human genome contains millions of genetic variants that make each individual unique. Some variants affect eye colour or blood type and others affect hereditary diseases. The DNA sequence may also include a pathogenic sequence variant that causes various disruptions in the function of the gene. The disruptions manifest themselves as hereditary diseases. Blueprint Genetics from Finland classifies genetic variants found in the genome from patient samples and analyses their connection to the described symptoms of the patients.
Genetic variants, Phenotypic data, DNA analysis, Genomic variants, ELIXIR
Genetic variants, Phenotypic data, DNA analysis, Genomic variants, ELIXIR
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