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.
UK Group to Sequence Osteosarcoma Patients; Develop Personalized Tests to Monitor Treatment Response
The goal of the project is two-fold: the exome sequencing portion of the study will look for genes that underlie the genesis of the disease, while whole-genome sequencing of patients' plasma will be used to look for patient-specific rearrangements that could be used as the basis for a test.
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