AIMC Topic: Genome-Wide Association Study
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Machine learning-enabled phenotyping for GWAS and TWAS of WUE traits in 869 field-grown sorghum accessions.
Plant physiology
Nov 3, 2021
Sorghum (Sorghum bicolor) is a model C4 crop made experimentally tractable by extensive genomic and genetic resources. Biomass sorghum is studied as a feedstock for biofuel and forage. Mechanistic modeling suggests that reducing stomatal conductance ...
Use of deep learning genomics to discriminate Alzheimer's disease and healthy controls.
Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference
Nov 1, 2021
Alzheimer's disease (AD) is the most prevalent neurodegenerative disorder and the most common form of dementia in the elderly. Because gene is an important clinical risk factor resulting in AD, genomic studies, such as genome-wide association studies...
Towards realizing the vision of precision medicine: AI based prediction of clinical drug response.
Brain : a journal of neurology
Jul 28, 2021
Accurate and individualized prediction of response to therapies is central to precision medicine. However, because of the generally complex and multifaceted nature of clinical drug response, realizing this vision is highly challenging, requiring inte...
Recent advances in network-based methods for disease gene prediction.
Briefings in bioinformatics
Jul 20, 2021
Disease-gene association through genome-wide association study (GWAS) is an arduous task for researchers. Investigating single nucleotide polymorphisms that correlate with specific diseases needs statistical analysis of associations. Considering the ...
Revisiting genome-wide association studies from statistical modelling to machine learning.
Briefings in bioinformatics
Jul 20, 2021
Over the last decade, genome-wide association studies (GWAS) have discovered thousands of genetic variants underlying complex human diseases and agriculturally important traits. These findings have been utilized to dissect the biological basis of dis...
Varmole: a biologically drop-connect deep neural network model for prioritizing disease risk variants and genes.
Bioinformatics (Oxford, England)
Jul 19, 2021
SUMMARY: Population studies such as genome-wide association study have identified a variety of genomic variants associated with human diseases. To further understand potential mechanisms of disease variants, recent statistical methods associate funct...
DECODE: a Deep-learning framework for Condensing enhancers and refining boundaries with large-scale functional assays.
Bioinformatics (Oxford, England)
Jul 12, 2021
MOTIVATION: Mapping distal regulatory elements, such as enhancers, is a cornerstone for elucidating how genetic variations may influence diseases. Previous enhancer-prediction methods have used either unsupervised approaches or supervised methods wit...
Discriminating Heterogeneous Trajectories of Resilience and Depression After Major Life Stressors Using Polygenic Scores.
JAMA psychiatry
Jul 1, 2021
IMPORTANCE: Major life stressors, such as loss and trauma, increase the risk of depression. It is known that individuals show heterogeneous trajectories of depressive symptoms following major life stressors, including chronic depression, recovery, an...
Combining artificial intelligence: deep learning with Hi-C data to predict the functional effects of non-coding variants.
Bioinformatics (Oxford, England)
Jun 16, 2021
MOTIVATION: Although genome-wide association studies (GWASs) have identified thousands of variants for various traits, the causal variants and the mechanisms underlying the significant loci are largely unknown. In this study, we aim to predict non-co...
Prediction of Alzheimer's disease-specific phospholipase c gamma-1 SNV by deep learning-based approach for high-throughput screening.
Proceedings of the National Academy of Sciences of the United States of America
Jan 19, 2021
Exon splicing triggered by unpredicted genetic mutation can cause translational variations in neurodegenerative disorders. In this study, we discover Alzheimer's disease (AD)-specific single-nucleotide variants (SNVs) and abnormal exon splicing of ph...
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