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Read Time: Induced pluripotent stem cells (iPSC) are suitable for discovering the genes that underly complex and also rare genetic diseases. Scientists from the German Cancer Research Center (DKFZ) and the European Molecular Biology Laboratory (EMBL), together with international partners, have studied genotype-phenotype relationships in iPSCs using data from approximately one thousand donors. 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.

Marc jan bonderNat genetOliver stegleWellcome trust sanger instituteStanford universityEuropean molecular biology laboratoryGerman cancer research centerNature geneticsமார்க் ஜான் போண்டர்நாட் ஜெநெட்வெல்கம் நம்பிக்கை சாங்கர் நிறுவனம்ஸ்டான்போர்ட் பல்கலைக்கழகம்ஐரோப்பிய மூலக்கூறு உயிரியல் ஆய்வகம்ஜெர்மன் புற்றுநோய் ஆராய்ச்சி மையம்இயற்கை ஜெநெடிக்ஸ்