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.
Mayo Clinic Plans 2012 Launch for Sequencing-Based Colon Cancer Panel
Like other pioneers in sequencing-based diagnostics, the Mayo team is grappling with questions such as how to deal with mutations of unknown significance, how to return results to patients, and whether results need to be verified with Sanger sequencing.
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