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.
At ACMG, Researchers Call for Improved Databases for Clinically Interpreting Genetic Variation
Whole-genome analyses are poised to transform pathology and other aspects of medicine, Mark Boguski told attendees at the American College of Medical Genetics meeting this weekend, but require improved resources for interpreting genetic variants.
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