| 1. |
- Thompson, B.A., et al.
(författare)
-
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
- 2014
-
Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 46:2, s. 107-115
-
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 Unpublished data submission was encouraged to assist in variant classification and was recognized through microattribution.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.
|
|
| 2. |
- Ralph, P., et al.
(författare)
-
Pandemic programming: How COVID-19 affects software developers and how their organizations can help
- 2020
-
Ingår i: Empirical Software Engineering. - : Springer Science and Business Media LLC. - 1382-3256 .- 1573-7616. ; 25
-
Tidskriftsartikel (refereegranskat)abstract
- Context As a novel coronavirus swept the world in early 2020, thousands of software developers began working from home. Many did so on short notice, under difficult and stressful conditions. Objective This study investigates the effects of the pandemic on developers' wellbeing and productivity. Method A questionnaire survey was created mainly from existing, validated scales and translated into 12 languages. The data was analyzed using non-parametric inferential statistics and structural equation modeling. Results The questionnaire received 2225 usable responses from 53 countries. Factor analysis supported the validity of the scales and the structural model achieved a good fit (CFI = 0.961, RMSEA = 0.051, SRMR = 0.067). Confirmatory results include: (1) the pandemic has had a negative effect on developers' wellbeing and productivity; (2) productivity and wellbeing are closely related; (3) disaster preparedness, fear related to the pandemic and home office ergonomics all affect wellbeing or productivity. Exploratory analysis suggests that: (1) women, parents and people with disabilities may be disproportionately affected; (2) different people need different kinds of support. Conclusions To improve employee productivity, software companies should focus on maximizing employee wellbeing and improving the ergonomics of employees' home offices. Women, parents and disabled persons may require extra support.
|
|
