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- Brownstein, Catherine A., et al.
(författare)
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An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
- 2014
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Ingår i: Genome Biology. - : Springer Science and Business Media LLC. - 1465-6906 .- 1474-760X. ; 15:3, s. R53-
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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. |
- Baruah, S., et al.
(författare)
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Photoreactivity of ZnO nanoparticles in visible light : Effect of surface states on electron transfer reaction
- 2009
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Ingår i: Journal of Applied Physics. - : American Institute of Physics (AIP). - 0021-8979 .- 1089-7550. ; 105:7
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Tidskriftsartikel (refereegranskat)abstract
- Wide band gap metal oxide semiconductors such as zinc oxide (ZnO) show visible band photolysis that has been employed, among others, to degrade harmful organic contaminants into harmless mineral acids. Metal oxides show enhanced photocatalytic activity with the increase in electronic defects in the crystallites. By introducing defects into the crystal lattice of ZnO nanoparticles, we observe a redshift in the optical absorption shifting from the ultraviolet region to the visible region (400-700 nm), which is due to the creation of intermediate defect states that inhibit the electron hole recombination process. The defects were introduced by fast nucleation and growth of the nanoparticles by rapid heating using microwave irradiation and subsequent quenching during the precipitation reaction. To elucidate the nature of the photodegradation process, picosecond resolved time correlated single photon count (TCSPC) spectroscopy was carried out to record the electronic transitions resulting from the de-excitation of the electrons to their stable states. Photodegradation and TCSPC studies showed that defect engineered ZnO nanoparticles obtained through fast crystallization during growth lead to a faster initial degradation rate of methylene blue as compared to the conventionally synthesized nanoparticles.
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| 3. |
- Makhal, A., et al.
(författare)
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Role of resonance energy transfer in light harvesting of zinc oxide-based dye-sensitized solar cells
- 2010
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Ingår i: The Journal of Physical Chemistry C. - : American Chemical Society (ACS). - 1932-7447 .- 1932-7455. ; 114:23, s. 10390-10395
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Tidskriftsartikel (refereegranskat)abstract
- In this contribution we have studied the dynamics of light harvesting of ZnO nanoparticles (NPs) to a surface adsorbed sensitizing dye (SD) N719. By using the picosecond resolved Forster resonance energy transfer (FRET) technique we have explored that the excited ZnO NPs resonantly transfer visible optical radiation to the SD N719. The consequence of the energy transfer on the performance of the overall efficiency of a model ZnO NP-based dye-sensitized solar cell (DSSC) has also been explored. We have demonstrated that the overall efficiency of a ZnO NP-based solar cell significantly depends on the presence of high-energy photons in the solar radiation. In a control experiment on a model TiO2 NP-based solar cell it has been demonstrated that the presence of high-energy photon has a minimal effect on the performance of the cell as the TiO2 NPs are incapable of harvesting high-energy photons from solar radiation. The possibility of the back electron transfer from the excited NPs to the SD has also been investigated by studying the NPs in the presence of an ideal electron accepting organic molecule, benzoquinone (BQ). The time constants and nonradiative rate constant obtained for the ZnO/N719 system are found to be different from those of the ZnO/BQ system, which rules out the possibility of back electron transfer from ZnO NPs to SD N719. Moreover, the observed FRET dynamics in the light harvesting process of the nanocrystalites may be efficient in the further use of the nanoparticles in the development of new photodevices.
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