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.
The Complete Five
March 03, 2009
Over at Genetic Future, Daniel MacArthur blogs about Complete Genomics and its deal to sequence five genomes for the Broad Institute -- one genome of a well-studied test case, and four from "tumor and matched-pair normals" to study glioblastoma and melanoma. MacArthur spoke with Complete's Geoff Nilsen about accuracy issues. While data estimates are still rough, "based on preliminary quality control data, Nilsen very cautiously estimated that they had somewhere in the vicinity of 80,000-100,000 false positive calls, and perhaps around 1,000 false negatives, for single nucleotide polymorphisms in their pilot genome sequence," MacArthur writes.