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EMBL - European Molecular Biology Laboratory

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This article is also available in Deutsch. Researchers identify thousands of genetic variants, many of which can be linked to specific diseases. Induced pluripotent stem cells iPSCs are suitable for discovering the genes that underlie complex and also rare genetic diseases. Tens of thousands of tiny genetic variations SNPs, single-nucleotide polymorphisms have been identified in the human genome that are associated with specific diseases. Many of these genetic variants are not located in the protein-coding regions of genes, but affect regulatory sections. Therefore, scientists are trying to find out if and in which tissues these variants can be linked to changes in the activity of specific genes. Typically, such analyses are performed in blood cells or tissue biopsies, depending on the type of disease.
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