scholarly journals Large scale assessment of consistency in sleep stage scoring rules among multiple sleep centers using an interpretable machine learning algorithm

Author(s):  
Gi-Ren Liu ◽  
Ting-Yu Lin ◽  
Hau-Tieng Wu ◽  
Yuan-Chung Sheu ◽  
Ching-Lung Liu ◽  
...  
2021 ◽  
Vol 428 ◽  
pp. 110074
Author(s):  
Rem-Sophia Mouradi ◽  
Cédric Goeury ◽  
Olivier Thual ◽  
Fabrice Zaoui ◽  
Pablo Tassi

2022 ◽  
Vol 12 (1) ◽  
pp. 114
Author(s):  
Chao Lu ◽  
Jiayin Song ◽  
Hui Li ◽  
Wenxing Yu ◽  
Yangquan Hao ◽  
...  

Osteoarthritis (OA) is the most common joint disease associated with pain and disability. OA patients are at a high risk for venous thrombosis (VTE). Here, we developed an interpretable machine learning (ML)-based model to predict VTE risk in patients with OA. To establish a prediction model, we used six ML algorithms, of which 35 variables were employed. Recursive feature elimination (RFE) was used to screen the most related clinical variables associated with VTE. SHapley additive exPlanations (SHAP) were applied to interpret the ML mode and determine the importance of the selected features. Overall, 3169 patients with OA (average age: 66.52 ± 7.28 years) were recruited from Xi’an Honghui Hospital. Of these, 352 and 2817 patients were diagnosed with and without VTE, respectively. The XGBoost algorithm showed the best performance. According to the RFE algorithms, 15 variables were retained for further modeling with the XGBoost algorithm. The top three predictors were Kellgren–Lawrence grade, age, and hypertension. Our study showed that the XGBoost model with 15 variables has a high potential to predict VTE risk in patients with OA.


2020 ◽  
Vol 4 (Supplement_2) ◽  
pp. 1559-1559
Author(s):  
Wanglong Gou ◽  
Chu-Wen Ling ◽  
Yan He ◽  
Zengliang Jiang ◽  
Yuanqing Fu ◽  
...  

Abstract Objectives The gut microbiome-type 2 diabetes (T2D) relationship among human cohorts have been controversial. We hypothesized that this limitation could be addressed by integrating the cutting-edge interpretable machine learning framework and large-scale human cohort studies. Methods 3 independent cohorts with >9000 participants were included in this study. We proposed a new machine learning-based analytic framework — using LightGBM to infer the relationship between incorporated features and T2D, and SHapley Additive explanation(SHAP) to identified microbiome features associated with the risk of T2D. We then generated a microbiome risk score (MRS) integrating the threshold and direction of the identified microbiome features to predict T2D risk. Results We finally identified 15 microbiome features (two of them are indicators of microbial diversity, others are taxa-related features) associated with the risk of T2D. The identified T2D-related gut microbiome features showed superior T2D prediction accuracy compared to host genetics or traditional risk factors. Furthermore, we found that the MRS (per unit change in MRS) consistently showed positive association with T2D risk in the discovery cohort (RR 1.28, 95%CI 1.23-1.33), external validation cohort 1 (RR 1.23, 95%CI 1.13-1.34) and external validation cohort 2 (GGMP, RR 1.12, 95%CI 1.06-1.18). The MRS could also predict future glucose increment. We subsequently identified dietary and lifestyle factors which could prospectively modulate the microbiome features, and found that body fat distribution may be the key factor modulating the gut microbiome-T2D relationship. Conclusions Taken together, we proposed a new analytical framework for the investigation of microbiome-disease relationship. The identified microbiome features may serve as potential drug targets for T2D in future. Funding Sources This study was funded by National Natural Science Foundation of China (81903316, 81773416), Westlake University (101396021801) and the 5010 Program for Clinical Researches (2007032) of the Sun Yat-sen University (Guangzhou, China).


2020 ◽  
Vol 142 (8) ◽  
pp. 3814-3822 ◽  
Author(s):  
George S. Fanourgakis ◽  
Konstantinos Gkagkas ◽  
Emmanuel Tylianakis ◽  
George E. Froudakis

2018 ◽  
Vol 07 (04) ◽  
pp. 164-173 ◽  
Author(s):  
Ian Campbell ◽  
Samantha Stover ◽  
Andres Hernandez-Garcia ◽  
Shalini Jhangiani ◽  
Jaya Punetha ◽  
...  

AbstractWolf–Hirschhorn syndrome (WHS) is caused by partial deletion of the short arm of chromosome 4 and is characterized by dysmorphic facies, congenital heart defects, intellectual/developmental disability, and increased risk for congenital diaphragmatic hernia (CDH). In this report, we describe a stillborn girl with WHS and a large CDH. A literature review revealed 15 cases of WHS with CDH, which overlap a 2.3-Mb CDH critical region. We applied a machine-learning algorithm that integrates large-scale genomic knowledge to genes within the 4p16.3 CDH critical region and identified FGFRL1, CTBP1, NSD2, FGFR3, CPLX1, MAEA, CTBP1-AS2, and ZNF141 as genes whose haploinsufficiency may contribute to the development of CDH.


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