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Science
Researchers from Duke University and the University of Michigan successfully diagnosed around half of the individuals that they tested during a pilot study on the use of
clinical exome sequencing. The investigators did whole-exome sequencing on individuals from a dozen parent-child trios for the study and pinned down likely causal mutations in six of the individuals, including new mutations in genes linked to Mendelian diseases.
Business
Fluidigm and the Broad Institute
launched a new center, housed at the Broad's Cambridge, Mass.-based headquarters, aimed at developing new methods and discoveries in mammalian single-cell genomics. The center intends to develop novel single-cell, microfluidic methods for gene expression profiling, RNA/DNA sequencing, and epigenetic analysis with an aim at making single-cell research accessible to the greater research community.
Funding
Launching what will be the maiden initiative for the months-old National Center for Advancing Translational Sciences, NIH Director Francis Collins
unveiled a program that will support researchers using biomarker-based studies and other approaches to repurpose compounds owned by three of the world's largest drug developers. NCATS will provide up to $20 million in 2013 through two types of cooperative agreements to fuel the new projects.
Genome Technology Magazine
For this month's Q&A, Matthew Dublin speaks with McGill University's John Breitner about a European consortium that aims to develop
molecular diagnostics for both Alzheimer's and Parkinson's disease. As part of the program, Breitner is developing standardized ways to describe patient samples as a first step in bringing innovations to the clinic. Breitner says that there are a number of biomarkers than can confirm or deny a presumptive diagnosis, but there is not yet a standard way to run tests based on such markers.
