Notes: An Experiment in CSCW

Computer Supported Co-operative Work (CSCW) systems are complex, yet no computer-based tools of any sophistication exist to support their development. Since several people often need to work together on the same project simultaneously, the computer system often proves to be a bottleneck. CSCW tools are a means of allowing several users to work towards their goal. Systems development is essentially a team process, yet support for CSCW on these systems in its infancy. The aim of this report is to record the building and experimental use of two prototype systems. These systems were developed for two main reasons: to explore the usefulness of two different environments for building CSCW systems; to experiment with some ideas that had arisen from group discussions on particular artefacts---notes---and see both how they could be implemented and how useful they were in practice. 1 Introduction This report has been produced as one of the outputs of the FoRST funded project "Improved Computer ..

Notes: an experiment in CSCW

Computer Supported Co-operative Work (CSCW) systems are complex, yet no computer-based tools of any sophistication exist to support their development. Since several people often need to work together on the same project simultaneously, the computer system often proves to be a bottleneck. CSCW tools are a means of allowing several users to work towards their goal. Systems development is essentially a team process, yet support for CSCW on these systems is in its infancy

A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients : findings and recommendations

Purpose: The craniosynostoses are characterized by premature fusion of one or more cranial sutures. The relative contribution of previously reported genes to craniosynostosis in large cohorts is unclear. Here we report on the use of a massively parallel sequencing panel in individuals with craniosynostosis without a prior molecular diagnosis. Methods: A 20-gene panel was designed based on the genes’ association with craniosynostosis, and clinically validated through retrospective testing of an Australian and New Zealand cohort of 233 individuals with craniosynostosis in whom previous testing had not identified a causative variant within FGFR1-3 hot-spot regions or the TWIST1 gene. An additional 76 individuals were tested prospectively. Results: Pathogenic or likely pathogenic variants in non-FGFR genes were identified in 43 individuals, with diagnostic yields of 14% and 15% in retrospective and prospective cohorts, respectively. Variants were identified most frequently in TCF12 (N = 22) and EFNB1 (N = 8), typically in individuals with nonsyndromic coronal craniosynostosis or TWIST1-negative clinically suspected Saethre–Chotzen syndrome. Clinically significant variants were also identified in ALX4, EFNA4, ERF, and FGF10. Conclusion: These findings support the clinical utility of a massively parallel sequencing panel for craniosynostosis. TCF12 and EFNB1 should be included in genetic testing for nonsyndromic coronal craniosynostosis or clinically suspected Saethre–Chotzen syndrome.</p

A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations

Purpose: The craniosynostoses are characterized by premature fusion of one or more cranial sutures. The relative contribution of previously reported genes to craniosynostosis in large cohorts is unclear. Here we report on the use of a massively parallel sequencing panel in individuals with craniosynostosis without a prior molecular diagnosis. Methods: A 20-gene panel was designed based on the genes’ association with craniosynostosis, and clinically validated through retrospective testing of an Australian and New Zealand cohort of 233 individuals with craniosynostosis in whom previous testing had not identified a causative variant within FGFR1-3 hot-spot regions or the TWIST1 gene. An additional 76 individuals were tested prospectively. Results: Pathogenic or likely pathogenic variants in non-FGFR genes were identified in 43 individuals, with diagnostic yields of 14% and 15% in retrospective and prospective cohorts, respectively. Variants were identified most frequently in TCF12 (N = 22) and EFNB1 (N = 8), typically in individuals with nonsyndromic coronal craniosynostosis or TWIST1-negative clinically suspected Saethre–Chotzen syndrome. Clinically significant variants were also identified in ALX4, EFNA4, ERF, and FGF10. Conclusion: These findings support the clinical utility of a massively parallel sequencing panel for craniosynostosis. TCF12 and EFNB1 should be included in genetic testing for nonsyndromic coronal craniosynostosis or clinically suspected Saethre–Chotzen syndrome.</p