Deep interpretability for GWAS

D Sharma, A Durand, MA Legault… - arXiv preprint arXiv …, 2020 - arxiv.org
Deep networks can be used to model these interactions, … deep interpretability technique
named DeepLIFT to show that known diabetes genetic risk factors can be identified using deep

Interpretable deep neural networks for more accurate predictive genomics and genome-wide association studies

A Badré - 2023 - shareok.org
… more interpretable if its decisions are easier for humans to understand. The terms interpretable
… In this dissertation, interpretable machine learning refers to gaining meaningful insights …

[HTML][HTML] Interpretable deep learning translation of GWAS and multi-omics findings to identify pathobiology and drug repurposing in Alzheimer's disease

J Xu, C Mao, Y Hou, Y Luo, JL Binder, Y Zhou… - Cell reports, 2022 - cell.com
deep learning framework to identify disease-associated genes (NETTAG). We leverage
non-coding GWAS … In summary, NETTAG offers a deep learning methodology that utilizes GWAS

Deep Learning for Efficient GWAS Feature Selection

K Li - arXiv preprint arXiv:2312.15055, 2023 - arxiv.org
… evolve, our extended deep neural network approach emerges as a potent tool for researchers
seeking accurate and interpretable feature selection in the complex landscape of GWAS. …

DeepCOMBI: explainable artificial intelligence for the analysis and discovery in genome-wide association studies

B Mieth, A Rozier, JA Rodriguez… - NAR genomics and …, 2021 - academic.oup.com
… , deep Taylor-based explanation techniques (48) have not yet been applied in the field of
GWAS and … To make LRP applicable as an explanation method for GWAS data, we use a very …

GenNet framework: interpretable deep learning for predicting phenotypes from genetic data

A van Hilten, SA Kushner, M Kayser, MA Ikram… - Communications …, 2021 - nature.com
… While genome-wide association studies (GWAS) have … Recent GWAS studies with increasingly
large sample sizes are … To illustrate, the latest GWAS for body height based on 700,000 …

[BOOK][B] Deep learning for genome-wide association studies

D Sharma - 2021 - search.proquest.com
… and interpretability of black-box models, including the motivations and goals of interpretability
research. We then give a brief survey of current interpretability techniques for deep

Genome‐wide association study‐based deep learning for survival prediction

T Sun, Y Wei, W Chen, Y Ding - Statistics in medicine, 2020 - Wiley Online Library
… massive GWAS data … deep learning to effectively extract features from the GWAS data.
Therefore, we develop and apply the DNN survival model to build an accurate and interpretable

Designing interpretable deep learning applications for functional genomics: a quantitative analysis

A Van Hilten, S Katz, E Saccenti… - Briefings in …, 2024 - academic.oup.com
… in interpretable deep-learning applications and the millions of individuals included in
genome-wide association studies (GWAS) (… Around these topics, GWAS consortia have formed …

DeepPerVar: a multi-modal deep learning framework for functional interpretation of genetic variants in personal genome

Y Wang, L Chen - Bioinformatics, 2022 - academic.oup.com
… variants in a GWAS risk locus. Finally, we release the proposed deep learning model as a
… not readily interpretable as the linear counterparts. However, a common practice to interpret …