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Lessons learned from the eMERGE Network: balancing genomics in discovery and practice
The Electronic Medical Records and Genomics (eMERGE) Network, established in 2007, is a consortium of academic and integrated health systems conducting discovery and implementation research in translational genomics. Here, we outline the history of the network, highlight major impacts and lessons learned, and present the tools and resources developed for large-scale genomic analyses and translation into a clinical setting. The network developed methods to extract phenotypes from the electronic medical record to perform genome-wide and phenome-wide association studies. Recruited cohorts were clinically sequenced off a custom panel for targeted sequencing of variants and monogenic disease risks and returned to participants to investigate the impact of return of genomic results. After generating a 105,000 participant-imputed genome-wide association study (GWAS) dataset for discovery, the network enrolled and sequenced 24,998 participants. Integration of these results into the medical record and the effects of results on participants provided key lessons to the field. These learned lessons inform genetic research in diverse populations and provide insights into the clinical impact of return and implementation of genomic medicine using the electronic medical record. The lessons produced by the eMERGE Network can be utilized by other consortia as translational genomic medicine research evolves
Beyond ‘furballs’ and ‘dumpling soups’ - towards a molecular architecture of signaling complexes and networks
The DESI experiment part I: science, targeting, and survey design
DESI (Dark Energy Spectroscopic Instrument) is a Stage IV ground-based dark energy experiment that will study baryon acoustic oscillations (BAO) and the growth of structure through redshift-space distortions with a wide-area galaxy and quasar redshift survey. To trace the underlying dark matter distribution, spectroscopic targets will be selected in four classes from imaging data. We will measure luminous red galaxies up to . To probe the Universe out to even higher redshift, DESI will target bright [O II] emission line galaxies up to . Quasars will be targeted both as direct tracers of the underlying dark matter distribution and, at higher redshifts (), for the Ly- forest absorption features in their spectra, which will be used to trace the distribution of neutral hydrogen. When moonlight prevents efficient observations of the faint targets of the baseline survey, DESI will conduct a magnitude-limited Bright Galaxy Survey comprising approximately 10 million galaxies with a median . In total, more than 30 million galaxy and quasar redshifts will be obtained to measure the BAO feature and determine the matter power spectrum, including redshift space distortions
The DESI Experiment Part II: Instrument Design
DESI (Dark Energy Spectropic Instrument) is a Stage IV ground-based dark energy experiment that will study baryon acoustic oscillations and the growth of structure through redshift-space distortions with a wide-area galaxy and quasar redshift survey. The DESI instrument is a robotically-actuated, fiber-fed spectrograph capable of taking up to 5,000 simultaneous spectra over a wavelength range from 360 nm to 980 nm. The fibers feed ten three-arm spectrographs with resolution between 2000 and 5500, depending on wavelength. The DESI instrument will be used to conduct a five-year survey designed to cover 14,000 deg. This powerful instrument will be installed at prime focus on the 4-m Mayall telescope in Kitt Peak, Arizona, along with a new optical corrector, which will provide a three-degree diameter field of view. The DESI collaboration will also deliver a spectroscopic pipeline and data management system to reduce and archive all data for eventual public use