Variation in 'junk' DNA leads to trouble

Although genetic variants are scattered throughout the human genome, scientists have largely ignored the stretches of repetitive genetic code known as 'junk' DNA in their search for differences that influence human health and disease. Now, researchers have discovered that variation in these overlooked regions can affect the stability of the genome and the proper function of the chromosomes that package our genetic material, leading to an increased risk of birth defects, infertility, and cancer.

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