| 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.
|
|
| 2. |
- Evans, Rachel, et al.
(författare)
-
Auditory Complaints in Scuba Divers : an Overview
- 2012
-
Ingår i: Indian Journal of Otolaryngology and Head & Neck Surgery. - : Springer. - 2231-3796 .- 0973-7707. ; 64:1, s. 71-78
-
Tidskriftsartikel (refereegranskat)abstract
- Pre-1970s, diving was seen as a predominantly male working occupation. Since then it has become a popular hobby, with increasing access to SCUBA diving while on holiday. For a leisure activity, diving puts the auditory system at the risk of a wide variety of complaints. However, there is still insufficient consensus on the frequency of these conditions, which ultimately would require more attention from hearing-healthcare professionals. A literature search of epidemiology studies of eight auditory complaints was conducted, using both individual and large-scale diving studies, with some reference to large-scale non-diving populations. A higher incidence was found for middle ear barotrauma, eustachian tube dysfunction, and alternobaric vertigo with a high correlation among females. Comparing these findings with a non-diving population found no statistically significant difference for hearing loss or tinnitus. Increased awareness of health professionals is required, training, and implementation of the Frenzel technique would help resolve the ambiguities of the Valsalva technique underwater.
|
|
| 3. |
- Weinstein, John N., et al.
(författare)
-
The cancer genome atlas pan-cancer analysis project
- 2013
-
Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 45:10, s. 1113-1120
-
Forskningsöversikt (refereegranskat)abstract
- The Cancer Genome Atlas (TCGA) Research Network has profiled and analyzed large numbers of human tumors to discover molecular aberrations at the DNA, RNA, protein and epigenetic levels. The resulting rich data provide a major opportunity to develop an integrated picture of commonalities, differences and emergent themes across tumor lineages. The Pan-Cancer initiative compares the first 12 tumor types profiled by TCGA. Analysis of the molecular aberrations and their functional roles across tumor types will teach us how to extend therapies effective in one cancer type to others with a similar genomic profile. © 2013 Nature America, Inc. All rights reserved.
|
|
