Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content

Search PHGKB:

Last Posted: Sep 26, 2022
spot light Highlights

Data-driven causal model discovery and personalized prediction in Alzheimer's disease.
Zheng Haoyang et al. NPJ digital medicine 2022 9 (1) 137

We develop an innovative data-driven modeling approach to build and parameterize a causal model to characterize the trajectories of AD biomarkers. This approach integrates causal model learning, population parameterization, parameter sensitivity analysis, and personalized prediction. By applying this integrated approach to a large multicenter database of AD biomarkers, the Alzheimer’s Disease Neuroimaging Initiative, several causal models for different AD stages are revealed. In addition, personalized models for each subject are calibrated and provide accurate predictions of future cognitive status.

Genetics of the human microglia regulome refines Alzheimer's disease risk loci.
Kosoy Roman et al. Nature genetics 2022 8 (8) 1145-1154

Here, we performed transcriptome and chromatin accessibility profiling in primary human microglia from 150 donors to identify genetically driven variation and cell-specific enhancer–promoter (E-P) interactions. Integrative fine-mapping analysis identified putative regulatory mechanisms for 21 AD risk loci, of which 18 were refined to a single gene, including 3 new candidate risk genes (KCNN4, FIBP and LRRC25). Transcription factor regulatory networks captured AD risk variation and identified SPI1 as a key putative regulator of microglia expression and AD risk.

The performance of artificial intelligence-driven technologies in diagnosing mental disorders: an umbrella review
A Abd-Alrazak et al, NPJ Digital Medicine, July 7, 2022

We included 15 systematic reviews of 852 citations identified. The included reviews assessed the performance of AI models in diagnosing Alzheimer’s disease (n?=?7), mild cognitive impairment (n?=?6), schizophrenia (n?=?3), bipolar disease (n?=?2), autism spectrum disorder (n?=?1), obsessive-compulsive disorder (n?=?1), post-traumatic stress disorder (n?=?1), and psychotic disorders (n?=?1). The performance of the AI models in diagnosing these mental disorders ranged between 21% and 100%. AI technologies offer great promise in diagnosing mental health disorders. The reported performance metrics paint a vivid picture of a bright future for AI in this field.

Multimodal deep learning for Alzheimer’s disease dementia assessment
S Qiu et al, Nature Comms, June 20, 2022

We report a deep learning framework that accomplishes multiple diagnostic steps in successive fashion to identify persons with normal cognition (NC), mild cognitive impairment (MCI), AD, and non-AD dementias (nADD). We demonstrate a range of models capable of accepting flexible combinations of routinely collected clinical information, including demographics, medical history, neuropsychological testing, neuroimaging, and functional assessments. We then show that these frameworks compare favorably with the diagnostic accuracy of practicing neurologists.

Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.