Researchers at Complete Genomics present their approach for clinical sequencing and haplotyping, based on long fragment read technology. "Cost-effective and accurate genome sequencing and haplotyping from 10 [to] 20 human cells, as demonstrated here, will enable comprehensive genetic studies and diverse clinical applications," the authors write in Nature. Our sister publication GenomeWeb Daily News has more on this study and on how Complete Genomics' stock responded to its release.
In a study of whole-genome sequence data from 1,795 Icelanders, Decode Genetics' Kari Stefansson and his colleagues show that "a coding mutation — A673T — in the APP gene that protects against Alzheimer's disease and cognitive decline in the elderly." Further, Stefansson et al. say that "the strong protective effect of the A673T substitution against Alzheimer's disease provides proof of principle for the hypothesis that reducing the β-cleavage of APP may protect against the disease."
An international team led by investigators in France presents a draft sequence of the 523-megabase genome of a banana — the Musa acuminata doubled-haploid genotype. The team says its study supplies clues as to the evolution of monocotyledonous plants and provides "a crucial stepping-stone for genetic improvement of banana." GenomeWeb Daily News has more.
"Feces, lizards, keyboards, and faces — Rob Knight likes to sequence the microbes on anything and everything," writes Virginia Gewin in a profile of the scientist from the University of Colorado Boulder. Discussing, among other things, the Earth Microbiome Project, Knight tells Nature that he plans to collect microbial samples whenever — and from wherever — he has the chance. "Later this month, for example, he will be scraping up microbial 'mats', which are among the most diverse communities known, from hypersaline waters off the Californian coast," Gewin reports. She adds that "Knight is sensitive to the charge that all this is an exercise in microbial surveying, rather than in hard hypothesis-testing." He tells Nature that his group does not take on any project for which "the scientific value isn't clear. … What motivates me, from a pragmatic standpoint, is how understanding the microbial world might help us improve human and environmental health."