[HTML][HTML] A guide for the diagnosis of rare and undiagnosed disease: beyond the exome
Rare diseases affect 30 million people in the USA and more than 300–400 million
worldwide, often causing chronic illness, disability, and premature death. Traditional …
worldwide, often causing chronic illness, disability, and premature death. Traditional …
Precision medicine, AI, and the future of personalized health care
KB Johnson, WQ Wei, D Weeraratne… - Clinical and …, 2021 - Wiley Online Library
The convergence of artificial intelligence (AI) and precision medicine promises to
revolutionize health care. Precision medicine methods identify phenotypes of patients with …
revolutionize health care. Precision medicine methods identify phenotypes of patients with …
[HTML][HTML] Key challenges for delivering clinical impact with artificial intelligence
Background Artificial intelligence (AI) research in healthcare is accelerating rapidly, with
potential applications being demonstrated across various domains of medicine. However …
potential applications being demonstrated across various domains of medicine. However …
GestaltMatcher facilitates rare disease matching using facial phenotype descriptors
Many monogenic disorders cause a characteristic facial morphology. Artificial intelligence
can support physicians in recognizing these patterns by associating facial phenotypes with …
can support physicians in recognizing these patterns by associating facial phenotypes with …
Deep learning for medical anomaly detection–a survey
Machine learning–based medical anomaly detection is an important problem that has been
extensively studied. Numerous approaches have been proposed across various medical …
extensively studied. Numerous approaches have been proposed across various medical …
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework
AJM Dingemans, M Hinne, KMG Truijen, L Goltstein… - Nature Genetics, 2023 - nature.com
Several molecular and phenotypic algorithms exist that establish genotype–phenotype
correlations, including facial recognition tools. However, no unified framework that …
correlations, including facial recognition tools. However, no unified framework that …
[HTML][HTML] Aberrant phase separation and nucleolar dysfunction in rare genetic diseases
MA Mensah, H Niskanen, AP Magalhaes, S Basu… - Nature, 2023 - nature.com
Thousands of genetic variants in protein-coding genes have been linked to disease.
However, the functional impact of most variants is unknown as they occur within intrinsically …
However, the functional impact of most variants is unknown as they occur within intrinsically …
Comparative analysis of surface water quality prediction performance and identification of key water parameters using different machine learning models based on big …
The water quality prediction performance of machine learning models may be not only
dependent on the models, but also dependent on the parameters in data set chosen for …
dependent on the models, but also dependent on the parameters in data set chosen for …
[HTML][HTML] Identifying facemask-wearing condition using image super-resolution with classification network to prevent COVID-19
The rapid worldwide spread of Coronavirus Disease 2019 (COVID-19) has resulted in a
global pandemic. Correct facemask wearing is valuable for infectious disease control, but …
global pandemic. Correct facemask wearing is valuable for infectious disease control, but …
Deep face recognition: A survey
Deep learning applies multiple processing layers to learn representations of data with
multiple levels of feature extraction. This emerging technique has reshaped the research …
multiple levels of feature extraction. This emerging technique has reshaped the research …