Inference of chronic obstructive pulmonary disease with deep learning on raw spirograms identifies new genetic loci and improves risk models

J Cosentino, B Behsaz, B Alipanahi, ZR McCaw… - Nature Genetics, 2023 - nature.com
Chronic obstructive pulmonary disease (COPD), the third leading cause of death worldwide,
is highly heritable. While COPD is clinically defined by applying thresholds to summary …

Artificial intelligence for dementia genetics and omics

C Bettencourt, N Skene, S Bandres‐Ciga… - Alzheimer's & …, 2023 - Wiley Online Library
Genetics and omics studies of Alzheimer's disease and other dementia subtypes enhance
our understanding of underlying mechanisms and pathways that can be targeted. We …

[HTML][HTML] The promise of explainable deep learning for omics data analysis: Adding new discovery tools to AI

M Santorsola, F Lescai - New Biotechnology, 2023 - Elsevier
Deep learning has already revolutionised the way a wide range of data is processed in
many areas of daily life. The ability to learn abstractions and relationships from …

Polygenic adaptation leads to a higher reproductive fitness of native Tibetans at high altitude

Y He, Y Guo, W Zheng, T Yue, H Zhang, B Wang… - Current Biology, 2023 - cell.com
The adaptation of Tibetans to high-altitude environments has been studied extensively.
However, the direct assessment of evolutionary adaptation, ie, the reproductive fitness of …

[HTML][HTML] Multi-PGS enhances polygenic prediction by combining 937 polygenic scores

C Albiñana, Z Zhu, AJ Schork, A Ingason… - Nature …, 2023 - nature.com
The predictive performance of polygenic scores (PGS) is largely dependent on the number
of samples available to train the PGS. Increasing the sample size for a specific phenotype is …

Multi-PGS enhances polygenic prediction: weighting 937 polygenic scores

C Albiñana, Z Zhu, AJ Schork, A Ingason, H Aschard… - medRxiv, 2022 - medrxiv.org
The predictive performance of polygenic scores (PGS) in clinical risk models is largely
dependent on the number of samples available to train the score, together with the …

[HTML][HTML] Systematic review of gastric cancer-associated genetic variants, gene-based meta-analysis, and gene-level functional analysis to identify candidate genes for …

S Lee, HK Yang, HJ Lee, DJ Park, SH Kong… - Frontiers in …, 2022 - frontiersin.org
Objective: Despite being a powerful tool to identify novel variants, genome-wide association
studies (GWAS) are not sufficient to explain the biological function of variants. In this study …

[HTML][HTML] Machine learning models for predicting blood pressure phenotypes by combining multiple polygenic risk scores

Y Hrytsenko, B Shea, M Elgart, N Kurniansyah… - Scientific Reports, 2024 - nature.com
We construct non-linear machine learning (ML) prediction models for systolic and diastolic
blood pressure (SBP, DBP) using demographic and clinical variables and polygenic risk …

[HTML][HTML] Exploring regional aspects of 3D facial variation within European individuals

F Wilke, N Herrick, H Matthews, H Hoskens, S Singh… - Scientific reports, 2023 - nature.com
Facial ancestry can be described as variation that exists in facial features that are shared
amongst members of a population due to environmental and genetic effects. Even within …

Adversarial attacks on genotype sequences

DM Montserrat, AG Ioannidis - ICASSP 2023-2023 IEEE …, 2023 - ieeexplore.ieee.org
Adversarial attacks can drastically change the output of a method by small alterations to its
input. While this can be a useful framework to analyze worst-case robustness, it can also be …