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.
First Foldit, Now Phylo
Researchers at McGill Univeristy in Montreal have recently launched an online video game which could do for comparative genomics what Foldit has done for structural proteomics, according to Wired Science. On November 29, McGill's Jérôme Waldispühl et al. launched Phylo, a videogame-based "framework for harnessing the computing power of mankind to solve a common problem — multiple sequence alignments." Because humans are efficient problem-solvers — and because "heuristics do not guarantee global optimization as it would be prohibitively computationally expensive to achieve an optimal alignment" — the team hopes that players will be able to optimize UCSC Genome Browser alignment data in order to solve complex genomics conundrums, such as the "consequences of functional, structural, or evolutionary relationships between the sequences." The McGill team is hopeful that broad participation will help researchers determine the origins of genetic disorders. "If some region is conserved across all species after alignment, it probably was conserved for some very specific reason. … We should be able to provide better understanding of the reason for which mutation potentially will create a disease, or why this disease appears," Waldispühl told Wired.