Intellectual and Developmental Disabilities (IDDs), such as Down syndrome, Fragile X syndrome, Rett syndrome, and autism spectrum disorder, usually manifest at birth or early childhood. IDDs are characterized by significant impairment in intellectual and adaptive functioning, and both genetic and environmental factors underpin IDD biology. Molecular and genetic stratification of IDDs remain challenging mainly due to overlapping factors and comorbidity. Advances in high throughput sequencing, imaging, and tools to record behavioral data at scale have greatly enhanced our understanding of the molecular, cellular, structural, and environmental basis of some IDDs. Fueled by the “big data” revolution, artificial intelligence (AI) and machine learning (ML) technologies have brought a whole new paradigm shift in computational biology. Evidently, the ML-driven approach to clinical diagnoses has the potential to augment classical methods that use symptoms and external observations, hoping to push the personalized treatment plan forward. Therefore, integrative analyses and applications of ML technology have a direct bearing on discoveries in IDDs. The application of ML to IDDs can potentially improve screening and early diagnosis, advance our understanding of the complexity of comorbidity, and accelerate the identification of biomarkers for clinical research and drug development. For more than five decades, the IDDRC network has supported a nexus of investigators at centers across the USA, all striving to understand the interplay between various factors underlying IDDs. In this review, we introduced fast-increasing multi-modal data types, highlighted example studies that employed ML technologies to illuminate factors and biological mechanisms underlying IDDs, as well as recent advances in ML technologies and their applications to IDDs and other neurological diseases. We discussed various molecular, clinical, and environmental data collection modes, including genetic, imaging, phenotypical, and behavioral data types, along with multiple repositories that store and share such data. Furthermore, we outlined some fundamental concepts of machine learning algorithms and presented our opinion on specific gaps that will need to be filled to accomplish, for example, reliable implementation of ML-based diagnosis technology in IDD clinics. We anticipate that this review will guide researchers to formulate AI and ML-based approaches to investigate IDDs and related conditions.
- NSF-PAR ID:
- 10293333
- Date Published:
- Journal Name:
- Integrative and Comparative Biology
- ISSN:
- 1540-7063
- Format(s):
- Medium: X
- Sponsoring Org:
- National Science Foundation
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Summary Cell therapies are powerful technologies in which human cells are reprogrammed for therapeutic applications such as killing cancer cells or replacing defective cells. The technologies underlying cell therapies are increasing in effectiveness and complexity, making rational engineering of cell therapies more difficult. Creating the next generation of cell therapies will require improved experimental approaches and predictive models. Artificial intelligence (AI) and machine learning (ML) methods have revolutionized several fields in biology including genome annotation, protein structure prediction, and enzyme design. In this review, we discuss the potential of combining experimental library screens and AI to build predictive models for the development of modular cell therapy technologies. Advances in DNA synthesis and high‐throughput screening techniques enable the construction and screening of libraries of modular cell therapy constructs. AI and ML models trained on this screening data can accelerate the development of cell therapies by generating predictive models, design rules, and improved designs.
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Abstract To date, many AI initiatives (eg, AI4K12, CS for All) developed standards and frameworks as guidance for educators to create accessible and engaging Artificial Intelligence (AI) learning experiences for K‐12 students. These efforts revealed a significant need to prepare youth to gain a fundamental understanding of how intelligence is created, applied, and its potential to perpetuate bias and unfairness. This study contributes to the growing interest in K‐12 AI education by examining student learning of modelling real‐world text data. Four students from an Advanced Placement computer science classroom at a public high school participated in this study. Our qualitative analysis reveals that the students developed nuanced and in‐depth understandings of how text classification models—a type of AI application—are trained. Specifically, we found that in modelling texts, students: (1) drew on their social experiences and cultural knowledge to create predictive features, (2) engineered predictive features to address model errors, (3) described model learning patterns from training data and (4) reasoned about noisy features when comparing models. This study contributes to an initial understanding of student learning of modelling unstructured data and offers implications for scaffolding in‐depth reasoning about model decision making.
Practitioner notes What is already known about this topic
Scholarly attention has turned to examining Artificial Intelligence (AI) literacy in K‐12 to help students understand the working mechanism of AI technologies and critically evaluate automated decisions made by computer models.
While efforts have been made to engage students in understanding AI through building machine learning models with data, few of them go in‐depth into teaching and learning of feature engineering, a critical concept in modelling data.
There is a need for research to examine students' data modelling processes, particularly in the little‐researched realm of unstructured data.
What this paper adds
Results show that students developed nuanced understandings of models learning patterns in data for automated decision making.
Results demonstrate that students drew on prior experience and knowledge in creating features from unstructured data in the learning task of building text classification models.
Students needed support in performing feature engineering practices, reasoning about noisy features and exploring features in rich social contexts that the data set is situated in.
Implications for practice and/or policy
It is important for schools to provide hands‐on model building experiences for students to understand and evaluate automated decisions from AI technologies.
Students should be empowered to draw on their cultural and social backgrounds as they create models and evaluate data sources.
To extend this work, educators should consider opportunities to integrate AI learning in other disciplinary subjects (ie, outside of computer science classes).
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- Free Publicly Accessible Full Text
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Accepted Manuscript1.0
- Journal Article:
- https://doi.org/10.1093/icb/icab188
