Deep learning-based phenotype imputation on population-scale biobank data increases genetic discoveries

U An, A Pazokitoroudi, M Alvarez, L Huang, S Bacanu… - Nature Genetics, 2023 - nature.com
Biobanks that collect deep phenotypic and genomic data across many individuals have
emerged as a key resource in human genetics. However, phenotypes in biobanks are often …

Synthetic surrogates improve power for genome-wide association studies of partially missing phenotypes in population biobanks

ZR McCaw, J Gao, X Lin, J Gronsbell - Nature Genetics, 2024 - nature.com
Within population biobanks, incomplete measurement of certain traits limits the power for
genetic discovery. Machine learning is increasingly used to impute the missing values from …

Identification of Potential Biomarkers for Major Depressive Disorder: Based on Integrated Bioinformatics and Clinical Validation

X Zhong, Y Chen, W Chen, Y Liu, S Gui, J Pu… - Molecular …, 2024 - Springer
Major depressive disorder (MDD) is a severe mental illness characterized by a lack of
objective biomarkers. Mounting evidence suggests there are extensive transcriptional …

Evidence for strong genetic correlations among internalizing psychopathology and related self-reported measures using both genomic and twin/adoptive approaches.

DE Gustavson, EF Stern, CA Reynolds… - … and Clinical Science, 2024 - psycnet.apa.org
The internalizing construct captures shared variance underlying risk for mood and anxiety
disorders. Internalizing factors based on diagnoses (or symptoms) of major depressive …

Valid inference for machine learning-assisted GWAS

J Miao, Y Wu, Z Sun, X Miao, T Lu, J Zhao, Q Lu - medRxiv, 2024 - medrxiv.org
Machine learning (ML) has revolutionized analytical strategies in almost all scientific
disciplines including human genetics and genomics. Due to challenges in sample collection …

[HTML][HTML] Polygenic Analyses Show Important Differences Between Major Depressive Disorder Symptoms Measured Using Various Instruments

L Huang, S Tang, J Rietkerk, V Appadurai, MD Krebs… - Biological …, 2024 - Elsevier
Background Symptoms of major depressive disorder (MDD) are commonly assessed using
self-rating instruments like the Patient Health Questionnaire-9 (PHQ-9)(current symptoms) …

Identification of Myocardial Infarction (MI) Probability from Imbalanced Medical Survey Data: An Artificial Neural Network (ANN) with Explainable AI (XAI) Insights.

SB Akter, S Akter, T Sarkar, D Eisenberg, JF Fernandez - medRxiv, 2024 - medrxiv.org
In the healthcare industry, many artificial intelligence (AI) models have attempted to
overcome bias from class imbalances while also maintaining high results. Firstly, when …

[HTML][HTML] Improving polygenic prediction from summary data by learning patterns of effect sharing across multiple phenotypes

D Kunkel, P Sørensen, V Shankar, F Morgante - bioRxiv, 2024 - ncbi.nlm.nih.gov
Polygenic prediction of complex trait phenotypes has become important in human genetics,
especially in the context of precision medicine. Recently, Morgante et al. introduced mr …

Multi-organ imaging-derived polygenic indexes for brain and body health

X Yang, PF Sullivan, B Li, Z Fan, D Ding, J Shu, Y Guo… - medRxiv, 2023 - medrxiv.org
The UK Biobank's brain imaging data is an essential resource for clinical research, but its
cost and difficulty in obtaining limit the imaging study to only 100,000 participants, leaving …