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Induced Pluripotent Stem Cells Reveal Causes of Disease


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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 Bonder , Nat Genet , Oliver Stegle , Wellcome Trust Sanger Institute , Stanford University , European Molecular Biology Laboratory , German Cancer Research Center , Nature Genetics , மார்க் ஜான் போண்டர் , நாட் ஜெநெட் , வெல்கம் நம்பிக்கை சாங்கர் நிறுவனம் , ஸ்டான்போர்ட் பல்கலைக்கழகம் , ஐரோப்பிய மூலக்கூறு உயிரியல் ஆய்வகம் , ஜெர்மன் புற்றுநோய் ஆராய்ச்சி மையம் , இயற்கை ஜெநெடிக்ஸ் ,

64 human genomes as new reference for global genetic diversity

64 human genomes as new reference for global genetic diversity
eurekalert.org - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from eurekalert.org Daily Mail and Mail on Sunday newspapers.

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