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.
Complete Genomics Expects to Sequence More than 300 Human Genomes in Q4
The company said that for the last 500 human genomes it analyzed, it covered more than 98 percent of each genome at 10-fold or greater coverage. Also, its software made high-confidence calls of more than 95 percent of the genome on average, and of more than 94 percent of the exome.
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