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Missing Links that connect Human DNA Variation with disease discovered

Understanding the genome's connections in 3D

Blood cell analysis identifies 1000s of disease-related genes. Using a pioneering technique developed at the Babraham Institute, results are beginning to make biological sense of the mountains of genetic data linking very small changes in our DNA sequence to our risk of disease. Discovering these missing links will inform the design of new drugs and future treatments for a range of diseases.

Comparing the genome sequences of 100s of 1000s of patients and healthy volunteers has revealed single-letter changes found more frequently in the DNA sequences of individuals with specific diseases. In most cases, the disease-linked changes occur in the large swaths of DNA located between genes, ie junk DNA...

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