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Molecular autopsies can reveal genetic risk factors in young people who unexpectedly die, but proper interpretation of the results can be challenging, according to a recent study published in Circulation. Following guidelines set by the American College of Medical Genetics and Genomics (ACMG) can help assess the risk of certain genetic variants, enabling proper counseling […]
They are the most common repeated elements in the human genome; more than a million copies are scattered among and between our genes. Called Alu elements, these relatively short (approximately 300 Watson-Crick base pairs), repetitive non-coding sequences of DNA have been implicated in the rapid evolution of humans and non-human primate species. Unfortunately, these repeats […]