Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels.

[en] PURPOSE: Neurodevelopmental disorders (NDDs), such as intellectual disability (ID) and autism spectrum disorder (ASD), exhibit genetic and phenotypic heterogeneity, making them difficult to differentiate without a molecular diagnosis. The Clinical Genome Resource Intellectual Disability/Autism Gene Curation Expert Panel (GCEP) uses systematic curation to distinguish ID/ASD genes that are appropriate for clinical testing (ie, with substantial evidence supporting their relationship to disease) from those that are not. METHODS: Using the Clinical Genome Resource gene-disease validity curation framework, the ID/Autism GCEP classified genes frequently included on clinical ID/ASD testing panels as Definitive, Strong, Moderate, Limited, Disputed, Refuted, or No Known Disease Relationship. RESULTS: As of September 2021, 156 gene-disease pairs have been evaluated. Although most (75%) were determined to have definitive roles in NDDs, 22 (14%) genes evaluated had either Limited or Disputed evidence. Such genes are currently not recommended for use in clinical testing owing to the limited ability to assess the effect of identified variants. CONCLUSION: Our understanding of gene-disease relationships evolves over time; new relationships are discovered and previously-held conclusions may be questioned. Without periodic re-examination, inaccurate gene-disease claims may be perpetuated. The ID/Autism GCEP will continue to evaluate these claims to improve diagnosis and clinical care for NDDs

Evaluating the Relationships between Riparian Land Cover Characteristics and Biological Integrity of Streams Using Random Forest Algorithms

The relationships between land cover characteristics in riparian areas and the biological integrity of rivers and streams are critical in riparian area management decision-making. This study aims to evaluate such relationships using the Trophic Diatom Index (TDI), Benthic Macroinvertebrate Index (BMI), Fish Assessment Index (FAI), and random forest regression, which can capture nonlinear and complex relationships with limited training datasets. Our results indicate that the proportions of land cover types in riparian areas, including urban, agricultural, and forested areas, have greater impacts on the biological communities in streams than those offered by land cover spatial patterns. The proportion of forests in riparian areas has the greatest influence on the biological integrity of streams. Partial dependence plots indicate that the biological integrity of streams gradually improves until the proportion of riparian forest areas reach about 60%; it rapidly decreases until riparian urban areas reach 25%, and declines significantly when the riparian agricultural area ranges from 20% to 40%. Overall, this study highlights the importance of riparian forests in the planning, restoration, and management of streams, and suggests that partial dependence plots may serve to provide insightful quantitative criteria for defining specific objectives that managers and decision-makers can use to improve stream conditions

Socioeconomic Risks and Their Impacts on Ecological River Health in South Korea: An Application of the Analytic Hierarchy Process

It is imperative to develop a methodology to identify river impairment sources, particularly the relative impact of socioeconomic sources, to enhance the efficiency of various river restoration schemes and policies and to have an internal diagnosis system in place. This study, therefore, aims to identify and analyze the relative importance of the socioeconomic factors affecting river ecosystem impairment in South Korea. To achieve this goal, we applied the Analytical Hierarchy Process (AHP) to evaluate expert judgement of the relative importance of different socioeconomic factors influencing river ecosystem impairment. Based on a list of socioeconomic factors influencing stream health, an AHP questionnaire was prepared and administered to experts in aquatic ecology. Our analysis reveals that secondary industries form the most significant source of stream ecosystem impairment. Moreover, the most critical socioeconomic factors affecting stream impairment are direct inflow pollution, policy implementation, and industrial wastewater. The results also suggest that the AHP is a rapid and robust approach to assessing the relative importance of different socioeconomic factors that affect river ecosystem health. The results can be used to assist decision makers in focusing on actions to improve river ecosystem health

Identifying Key Environmental Factors for Paulownia coreana Habitats: Implementing National On-Site Survey and Machine Learning Algorithms

Monitoring and preserving natural habitats has become an essential activity in many countries today. As a native tree species in Korea, Paulownia coreana has periodically been surveyed in national ecological surveys and was identified as an important target for conservation as well as habitat monitoring and management. This study explores habitat suitability models (HSMs) for Paulownia coreana in conjunction with national ecological survey data and various environmental factors. Together with environmental variables, the national ecological survey data were run through machine learning algorithms such as Artificial Neural Network and Decision Tree & Rules, which were used to identify the impact of individual variables and create HSMs for Paulownia coreana, respectively. Unlike other studies, which used remote sensing data to create HSMs, this study employed periodical on-site survey data for enhanced validity. Moreover, localized environmental resources such as topography, soil, and rainfall were taken into account to project habitat suitability. Among the environment variables used, the study identified critical attributes that affect the habitat conditions of Paulownia coreana. Therefore, the habitat suitability modelling methods employed in this study could play key roles in planning, monitoring, and managing plants species in regional and national levels. Furthermore, it could shed light on existing challenges and future research needs

Identifying Key Environmental Factors for <i>Paulownia coreana</i> Habitats: Implementing National On-Site Survey and Machine Learning Algorithms

Monitoring and preserving natural habitats has become an essential activity in many countries today. As a native tree species in Korea, Paulownia coreana has periodically been surveyed in national ecological surveys and was identified as an important target for conservation as well as habitat monitoring and management. This study explores habitat suitability models (HSMs) for Paulownia coreana in conjunction with national ecological survey data and various environmental factors. Together with environmental variables, the national ecological survey data were run through machine learning algorithms such as Artificial Neural Network and Decision Tree & Rules, which were used to identify the impact of individual variables and create HSMs for Paulownia coreana, respectively. Unlike other studies, which used remote sensing data to create HSMs, this study employed periodical on-site survey data for enhanced validity. Moreover, localized environmental resources such as topography, soil, and rainfall were taken into account to project habitat suitability. Among the environment variables used, the study identified critical attributes that affect the habitat conditions of Paulownia coreana. Therefore, the habitat suitability modelling methods employed in this study could play key roles in planning, monitoring, and managing plants species in regional and national levels. Furthermore, it could shed light on existing challenges and future research needs

Stability-Enhanced Liquid Crystal Mode for Flexible Display Applications

Abstract We demonstrated stability-enhance

Green Space and Apartment Prices: Exploring the Effects of the Green Space Ratio and Visual Greenery

Urban green spaces provide various social, economic, health, aesthetic, environmental, and ecological benefits. This study aimed to investigate the influence of green spaces on apartment prices, with a particular emphasis on visual greenery and the proportion of green spaces. Hedonic pricing models have often been used to assess the impact of green spaces on housing prices. Herein, 16 variables were considered as factors affecting housing prices and divided into housing, neighborhood, and green space characteristics. The findings indicate that the presence of green spaces enhanced the value of apartment complexes. Moreover, both visual greenery and the proportion of green spaces within apartment complexes influenced housing prices. Additional analysis demonstrated the impact of green space characteristics within Seoul apartment complexes on housing price changes from 2016 to 2022, finding that higher green space proportions and visual greenery led to approximately 20% higher price increases, and structural equation modeling revealed that the proportion of green spaces within apartment complexes, directly and indirectly, influenced housing prices through visual greenery. Overall, this study emphasized the importance of ensuring well-managed green spaces within and around apartment complexes