Connection Between Epigenome, Selective Mutability, Evolution, and Human Disease
Li, Harris et al., PLoS Genetics
Researchers at the Baylor College of Medicine and elsewhere propose a "connection between the epigenome, selective mutability, evolution, and human disease" based on the findings of their study on associations of structural mutability with germline DNA methylation and with non-allelic homologous recombination mediated by low-copy repeats. "Combined evidence from four human sperm methylome maps, human genome evolution, structural polymorphisms in the human population, and previous genomic and disease studies consistently points to a strong association of germline hypomethylation and genomic instability," the Baylor-led team writes.
Genomic Diagnostics Continue to Advance, Though Commercialization Poses Challenges
At the Future of Genomics Medicine conference hosted earlier this month by the Scripps Translational Research Institute, several speakers discussed the rapid progress they have made in developing genomic tests to detect disease and guide treatment, as well as the hurdles to commercialization.
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