| 1. |
- Hielscher, Tommy, et al.
(författare)
-
Discovering, selecting and exploiting feature sequence records of study participants for the classification of epidemiological data on hepatic steatosis
- 2018
-
Ingår i: Proceedings of the 33rd Annual ACM Symposium on Applied Computing. - New York, NY, USA : Association for Computing Machinery (ACM). - 9781450351911 ; , s. 6-13
-
Konferensbidrag (refereegranskat)abstract
- In longitudinal epidemiological studies, participants undergo repeated medical examinations and are thus represented by a potentially large number of short examination outcome sequences. Some of those sequences may contain important information in various forms, such as patterns, with respect to the disease under study, while others may be on features of little relevance to the outcome. In this work, we propose a framework for Discovery, Selection and Exploitation (DiSelEx) of longitudinal epidemiological data, aiming to identify informative patterns among these sequences. DiSelEx combines sequence clustering with supervised learning to identify sequence groups that contribute to class separation. Newly derived and old features are evaluated and selected according to their redundancy and informativeness regarding the target variable. The selected feature set is then used to learn a classification model on the study data. We evaluate DiSelEx on cohort participants for the disorder "hepatic steatosis" and report on the impact on predictive performance when using sequential data in comparison to utilizing only the basic classifier.
|
|
| 2. |
- Schafmayer, Clemens, et al.
(författare)
-
Genome-wide association analysis of diverticular disease points towards neuromuscular, connective tissue and epithelial pathomechanisms
- 2019
-
Ingår i: Gut. - : BMJ. - 0017-5749 .- 1468-3288. ; 68:5, s. 854-865
-
Tidskriftsartikel (refereegranskat)abstract
- Objective Diverticular disease is a common complex disorder characterised by mucosal outpouchings of the colonic wall that manifests through complications such as diverticulitis, perforation and bleeding. We report the to date largest genome-wide association study (GWAS) to identify genetic risk factors for diverticular disease. Design Discovery GWAS analysis was performed on UK Biobank imputed genotypes using 31 964 cases and 419 135 controls of European descent. Associations were replicated in a European sample of 3893 cases and 2829 diverticula-free controls and evaluated for risk contribution to diverticulitis and uncomplicated diverticulosis. Transcripts at top 20 replicating loci were analysed by real-time quatitative PCR in preparations of the mucosal, submucosal and muscular layer of colon. The localisation of expressed protein at selected loci was investigated by immunohistochemistry. Results We discovered 48 risk loci, of which 12 are novel, with genome-wide significance and consistent OR in the replication sample. Nominal replication (p< 0.05) was observed for 27 loci, and additional 8 in meta-analysis with a population-based cohort. The most significant novel risk variant rs9960286 is located near CTAGE1 with a p value of 2.3x10-10 and 0.002 (OR allelic = 1.14 (95% CI 1.05 to 1.24)) in the replication analysis. Four loci showed stronger effects for diverticulitis, PHGR1 (OR 1.32, 95% CI 1.12 to 1.56), FAM155A-2 (OR 1.21, 95% CI 1.04 to 1.42), CALCB (OR 1.17, 95% CI 1.03 to 1.33) and S100A10 (OR 1.17, 95% CI 1.03 to 1.33). Conclusion I n silico analyses point to diverticulosis primarily as a disorder of intestinal neuromuscular function and of impaired connective fibre support, while an additional diverticulitis risk might be conferred by epithelial dysfunction.
|
|
| 3. |
- Tahmasian, Masoud, et al.
(författare)
-
ENIGMA-Sleep : Challenges, opportunities, and the road map
- 2021
-
Ingår i: Journal of Sleep Research. - : Wiley. - 0962-1105 .- 1365-2869. ; 30:6
-
Forskningsöversikt (refereegranskat)abstract
- Neuroimaging and genetics studies have advanced our understanding of the neurobiology of sleep and its disorders. However, individual studies usually have limitations to identifying consistent and reproducible effects, including modest sample sizes, heterogeneous clinical characteristics and varied methodologies. These issues call for a large-scale multi-centre effort in sleep research, in order to increase the number of samples, and harmonize the methods of data collection, preprocessing and analysis using pre-registered well-established protocols. The Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) consortium provides a powerful collaborative framework for combining datasets across individual sites. Recently, we have launched the ENIGMA-Sleep working group with the collaboration of several institutes from 15 countries to perform large-scale worldwide neuroimaging and genetics studies for better understanding the neurobiology of impaired sleep quality in population-based healthy individuals, the neural consequences of sleep deprivation, pathophysiology of sleep disorders, as well as neural correlates of sleep disturbances across various neuropsychiatric disorders. In this introductory review, we describe the details of our currently available datasets and our ongoing projects in the ENIGMA-Sleep group, and discuss both the potential challenges and opportunities of a collaborative initiative in sleep medicine.
|
|
