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.
Q&A: Gregory Heath on Early Lessons from Illumina's Clinical Sequencing Program
Gregory Heath, senior vice president and general manager of diagnostics at Illumina, spoke with Clinical Sequencing News about the company's experience with sequencing patient genomes, the challenges it has faced, and what he sees as the future of clinical sequencing.
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