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- Thompson, B.A., et al.
(författare)
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Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
- 2014
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 46:2, s. 107-115
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Tidskriftsartikel (refereegranskat)abstract
- The clinical classification of hereditary sequence variants identified in disease-related genes directly affects clinical management of patients and their relatives. The International Society for Gastrointestinal Hereditary Tumours (InSiGHT) undertook a collaborative effort to develop, test and apply a standardized classification scheme to constitutional variants in the Lynch syndrome-associated genes MLH1, MSH2, MSH6 and PMS2. Unpublished data submission was encouraged to assist in variant classification and was recognized through microattribution. The scheme was refined by multidisciplinary expert committee review of the clinical and functional data available for variants, applied to 2,360 sequence alterations, and disseminated online. Assessment using validated criteria altered classifications for 66% of 12,006 database entries. Clinical recommendations based on transparent evaluation are now possible for 1,370 variants that were not obviously protein truncating from nomenclature. This large-scale endeavor will facilitate the consistent management of families suspected to have Lynch syndrome and demonstrates the value of multidisciplinary collaboration in the curation and classification of variants in public locus-specific databases. © 2014 Nature America, Inc.
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| 4. |
- Rivera-Monroy, Victor H., et al.
(författare)
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Salinity and Chlorophyll a as Performance Measures to Rehabilitate a Mangrove-Dominated Deltaic Coastal Region : the Cienaga Grande de Santa Marta-Pajarales Lagoon Complex, Colombia
- 2011
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Ingår i: Estuaries and Coasts. - : Springer Science and Business Media LLC. - 1559-2723 .- 1559-2731. ; 34:1, s. 1-19
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Tidskriftsartikel (refereegranskat)abstract
- Salinity, water temperature, and chlorophyll a (chl-a) biomass were used as performance measures in the period 1999-2001 to evaluate the effect of a hydrological rehabilitation project in the Cienaga Grande de Santa Marta (CGSM)-Pajarales lagoon complex, Colombia where freshwater diversions were initiated in 1995 and completed in 1998. The objective of this study was to evaluate how diversions of freshwater into previously hypersaline (>80) environments changed the spatial and temporal distribution of environmental characteristics. Following the diversion, 19 surveys and transects using a flow-through system were surveyed in the CGSM-Pajarales complex to continuously measure selected water quality parameters. Geostatistical analysis indicates that hydrology and salinity regimes and water circulation patterns in the CGSM lagoon are largely controlled by freshwater discharge from the Fundacion, Aracataca, and Sevilla Rivers. Residence times in the CGSM lagoon were similar before (15.5+/-3.8 days) and after (14.2+/-2.0 days) the rehabilitation project and indicated that the system is flushed regularly. In contrast, chl-a biomass was highly variable in the CGSM-Pajarales lagoon complex and not related to discharge patterns. Mean annual chl-a biomass (44-250 mu g L(-1)) following the diversion project was similar to values recorded since the 1980s and still remains among the highest reported in coastal systems around the world owing to its unique hydrology regulated by the Magdalena River and Sierra Nevada de Santa Marta watersheds and the high teleconnection to the El Nino Southern Oscillation (ENSO). Our results confirm that the reduction in salinity in the CGSM lagoon and Pajarales complex during 1999-2000 was largely driven by high precipitation (2500 mm) induced by the ENSO-La Nina rather than by the freshwater diversions.
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- Ishigami, G., et al.
(författare)
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Performance analysis and odometry improvement of an omnidirectional mobile robot for outdoor terrain
- 2011
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Ingår i: Proceedings. - Piscataway, N.J. : IEEE Press. - 9781612844541 ; , s. 4091-4096
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Konferensbidrag (refereegranskat)abstract
- In this paper an omnidirectional mobile robot that possesses high mobility in rough terrain is presented. The omnidirectional robot has four active split offset caster (ASOC) modules, enabling the robot to move in any planar direction. It also possesses passive suspension articulation, allowing the robot to conform to uneven terrain. The agility of the robot is experimentally evaluated in various configurations. In addition, an odometry method that mitigates position estimation error due to wheel slippage is proposed. A key aspect of the proposed method is to utilize sensory data of wheel velocity, and turning rate around each ASOC pivot shaft, along with kinematic constraints of the robot configuration. Experimental odometry tests with different maneuvers in rough terrain are presented that confirm the utility of the proposed method. © 2011 IEEE.
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