Family-Based Whole-Genome Sequencing Reveals Candidates for Mendelian Disease
Roach, Glusman et al., Science
Researchers at the Institute for Systems Biology and Complete Genomics have identified candidate disease-causing genes for Miller syndrome and ciliary dyskinesia, both Mendelian disorders. They sequenced the genomes of a family of four, allowing them to determine recombination sites with precision (at 99.999 percent accuracy) and identify rare single-nucleotide polymorphisms. "Our results demonstrate the unique value of complete genome sequencing in families," the authors write.
South African Group Joins Thermo Fisher's RNAi Global Initiative
NEW YORK (GenomeWeb News) โ South Africa's Council for Scientific and Industrial Research (CSIR) has joined Thermo Fisher Scientific's RNAi Global Initiative, an international alliance of research centers that use Thermo Fisher's RNAi tools, the firm said today.
These tools include two siRNA libraries, the siGenome SmartPool Mouse library and the On-TargetPlus SmartPool Human Genome sirRNA Library, both of which include reagents designed for use in silencing each gene in the genome.
Pretoria-based CSIR will use Thermo Fisher's Dharmacon siRNA collections for mapping of gene networks and the investigation of host-pathogen interactions for the major disease burdens in Africa, including HIV/AIDS, tuberculosis, and cancer, said Thermo Fisher.
"Just as mapping brain networks is important, so too is understanding the cartography of gene networks," CSIR's Research Leader of Synthetic Biology, Musa Mhlanga, said in a statement. "Our goal is to identify the groups of genes working together in different biological contexts, from growth and development to infectious and chronic diseases."
The RNAi Global Initiative holds two international meetings each year and involves interactions between members through forums and teleconferences, Thermo Fisher said. The initiative, which was launched in 2005, has more than 50 members in 15 different countries.
Financial terms of the agreement were not released.