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Sökning: WFRF:(Paz Alexander)

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1.
  • Brownstein, Catherine A., et al. (författare)
  • An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
  • 2014
  • Ingår i: Genome Biology. - : Springer Science and Business Media LLC. - 1465-6906 .- 1474-760X. ; 15:3, s. R53-
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: There is tremendous potential for genome sequencing to improve clinical diagnosis and care once it becomes routinely accessible, but this will require formalizing research methods into clinical best practices in the areas of sequence data generation, analysis, interpretation and reporting. The CLARITY Challenge was designed to spur convergence in methods for diagnosing genetic disease starting from clinical case history and genome sequencing data. DNA samples were obtained from three families with heritable genetic disorders and genomic sequence data were donated by sequencing platform vendors. The challenge was to analyze and interpret these data with the goals of identifying disease-causing variants and reporting the findings in a clinically useful format. Participating contestant groups were solicited broadly, and an independent panel of judges evaluated their performance. Results: A total of 30 international groups were engaged. The entries reveal a general convergence of practices on most elements of the analysis and interpretation process. However, even given this commonality of approach, only two groups identified the consensus candidate variants in all disease cases, demonstrating a need for consistent fine-tuning of the generally accepted methods. There was greater diversity of the final clinical report content and in the patient consenting process, demonstrating that these areas require additional exploration and standardization. Conclusions: The CLARITY Challenge provides a comprehensive assessment of current practices for using genome sequencing to diagnose and report genetic diseases. There is remarkable convergence in bioinformatic techniques, but medical interpretation and reporting are areas that require further development by many groups.
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2.
  • Korablev, Oleg I., et al. (författare)
  • Infrared Spectrometer for ExoMars: A Mast-Mounted Instrument for the Rover
  • 2017
  • Ingår i: Astrobiology. - : Mary Ann Liebert. - 1531-1074 .- 1557-8070. ; 17:6-7, s. 542-564
  • Tidskriftsartikel (refereegranskat)abstract
    • ISEM (Infrared Spectrometer for ExoMars) is a pencil-beam infrared spectrometer that will measure reflected solar radiation in the near infrared range for context assessment of the surface mineralogy in the vicinity of the ExoMars rover. The instrument will be accommodated on the mast of the rover and will be operated together with the panoramic camera (PanCam), high-resolution camera (HRC). ISEM will study the mineralogical and petrographic composition of the martian surface in the vicinity of the rover, and in combination with the other remote sensing instruments, it will aid in the selection of potential targets for close-up investigations and drilling sites. Of particular scientific interest are water-bearing minerals, such as phyllosilicates, sulfates, carbonates, and minerals indicative of astrobiological potential, such as borates, nitrates, and ammonium-bearing minerals. The instrument has an ∼1° field of view and covers the spectral range between 1.15 and 3.30 μm with a spectral resolution varying from 3.3 nm at 1.15 μm to 28 nm at 3.30 μm. The ISEM optical head is mounted on the mast, and its electronics box is located inside the rover's body. The spectrometer uses an acousto-optic tunable filter and a Peltier-cooled InAs detector. The mass of ISEM is 1.74 kg, including the electronics and harness. The science objectives of the experiment, the instrument design, and operational scenarios are described.
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