INTERVENE
Publications
2024
A unified framework for estimating country-specific cumulative incidence for 18 diseases stratified by polygenic risk
Nature Communications, June
Evaluation of polygenic scoring methods in five biobanks shows larger variation between biobanks than methods and finds benefits of ensemble learning
Am J Hum Genet, July
2023
Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder
Respiratory Research, June
A unified framework for estimating country-specific cumulative incidence for 18 diseases stratified by polygenic risk
medRxiv, June
https://www.medrxiv.org/content/10.1101/2023.06.12.23291186v1
Nationwide health, socio-economic and genetic predictors of COVID-19 vaccination status in Finland
Nature Human Behaviour, April
Contextualized Graph Embeddings for Adverse Drug Event Detection
Joint European Conference on Machine Learning and Knowledge Discovery in Databases, March
https://doi.org/10.1007/978-3-031-26390-3_35
A Critical Look at the Consistency of Causal Estimation with Deep Latent Variable Models
arXiv, March
https://arxiv.org/pdf/2102.06648.pdf
Genetic predictors of lifelong medication-use patterns in cardiometabolic diseases
Nature Medicine, Janury
Global biobank analyses provide lessons for developing polygenic risk scores across diverse cohorts
Cell Genomics, January
https://doi.org/10.1101/2021.11.18.21266545
Ethical layering in AI-driven polygenic risk scores—New complexities, new challenges
Frontiers in Genetics, January
https://doi:10.3389/fgene.2023.1098439
2022
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes
Cells, December
Genome-wide risk prediction of common diseases across ancestries in one million people.
Cell genomics, April
Informative Bayesian Neural Network Priors for Weak Signals
Bayesian Anal, December
Health, socioeconomic and genetic predictors of COVID-19 vaccination uptake: a nationwide machine-learning study
medRxiv, November
https://doi.org/10.1101/2022.11.11.22282213
Gene-Gene Interaction Detection with Deep Learning
Nature Communications, November
https://doi.org/10.1038/s42003-022-04186-y
Multitask Balanced and Recalibrated Network for Medical Code Prediction
ACM Trans. Intell. Syst. Technol, November
https://doi.org/10.1145/3563041
Systematic comparison of family history and polygenic risk across 24 common diseases
Am J Hum Genet, November
Integrating transcriptomics, metabolomics, and GWAS helps reveal molecular mechanisms for metabolite levels and disease risk
Am J Hum Genet, October
Multi-ancestry genome-wide association study of gestational diabetes mellitus highlights genetic links with type 2 diabetes
Hum Mol Genet, October
Omics-informed CNV calls reduce false-positive rates and improve power for CNV-trait associations
HGG Adv, October
https://doi.org/10.1016/j.xhgg.2022.100133
An explainable model of host genetic interactions linked to COVID-19 severity
Commun Biol. October
https://www.nature.com/articles/s42003-022-04073-6
Reducing noisy annotations for depression estimation from facial images.
Neural Networks, September
https://doi.org/10.1016/j.neunet.2022.05.025
Genetic risk factors have a substantial impact on healthy life years
Nature Medicine, September
https://doi.org/10.1038/s41591-022-01957-2
Identifying interpretable gene-biomarker associations with functionally informed kernel-based tests in 190,000 exomes.
Nature Communications, September
A cross-disorder dosage sensitivity map of the human genome
Cell, August
https://doi.org/10.1016/j.cell.2022.06.036
Inframe insertion and splice site variants in MFGE8 associate with protection against coronary atherosclerosis.
Commun Biol, August
https://doi.org/10.1038/s42003-022-03552-0
COVID-19: a challenge and an opportunity
Eur J Hum Genet, August
Host genetic basis of COVID-19: from methodologies to genes
Eur J Hum Genet, August
https://www.nature.com/articles/s41431-022-01121-x
Modelling methicillin-resistant Staphylococcus aureus decolonization: interactions between body sites and the impact of site-specific clearance
J. R. Soc. Interface, June
https://doi.org/10.1098/rsif.2021.0916
Advancing our understanding of genetic risk factors and potential personalized strategies for pelvic organ prolapse
Nat Commun, June
Pathogen-sugar interactions revealed by universal saturation transfer analysis.
Science, June
The human genetic epidemiology of COVID-19.
Nat Rev Genet, May
Challenges and Opportunities for Developing More Generalizable Polygenic Risk Scores
Annu. Rev. Biomed. Data Sci, May
https://doi.org/10.1146/annurev-biodatasci-111721-074830
Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19
Viruses, May
https://doi.org/10.3390/v14061185
Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci
Nature Communications, Mar
https://doi.org/10.1038/s41467-022-29143-5
Multi-scale local-global architecture for person re-identification
Soft Comput. March
https://doi.org/10.1007/s00500-022-06859-6
Polygenic scores in biomedical research
Nat Rev Genet, March
https://doi.org/10.1038/s41576-022-00470-z
Integration of questionnaire-based risk factors improves polygenic risk scores for human coronary heart disease and type 2 diabetes
Communications biology, February
https://doi.org/10.1038/s42003-021-02996-0
Patterns of item nonresponse behavior to survey questionnaires are systematic and have a genetic basis
bioRxiv, February
https://doi.org/10.1101/2022.02.11.480140
Estimation of recurrent atherosclerotic cardiovascular event risk in patients with established cardiovascular disease: the updated SMART2 algorithm
European Heart Journal, February
https://doi.org/10.1093/eurheartj/ehac056
Multiparametric platform for profiling lipid trafficking in human leukocytes
Cell Reports Methods, February
https://doi.org/10.1016/j.crmeth.2022.100166
A Unified Review of Deep Learning for Automated Medical Coding
arXIv, January
https://doi.org/10.48550/arXiv.2201.02797
Machine learning optimized polygenic scores for blood cell traits identify sex-specific trajectories and genetic correlations with disease.
https://doi.org/10.1016/j.xgen.2021.100086
2021
Does the magic of BERT apply to medical code assignment? A quantitative study
Comp Biol Med, October
10.1016/j.compbiomed.2021.104998
Clinical Conditions and Their Impact on Utility of Genetic Scores for Prediction of Acute Coronary Syndrome
Circ Genom Precis Med, August
https://www.ahajournals.org/doi/10.1161/CIRCGEN.120.003283
Mapping the human genetic architecture of COVID-19
Nature.
https://doi.org/10.1038/s41586-021-03767-x
Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps
Nature Medicine.
https://doi.org/10.1038/s41591-021-01549-6
Patient Outcome and Zero-shot Diagnosis Prediction with Hypernetwork-guided Multitask Learning
ArXiv
Medical Code Assignment with Gated Convolution and Note-Code Interaction
ACL-IJCNLP 2021, April
10.18653/v1/2021.findings-acl.89
A Survey on Knowledge Graphs: Representation, Acquisition and Applications
ArXiv, April