Publications
2024
A unified framework for estimating country-specific cumulative incidence for 18 diseases stratified by polygenic risk
Nature Communications, June
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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
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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
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Nationwide health, socio-economic and genetic predictors of COVID-19 vaccination status in Finland
Nature Human Behaviour, April
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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
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A Critical Look at the Consistency of Causal Estimation with Deep Latent Variable Models
arXiv, March
https://arxiv.org/pdf/2102.06648.pdf
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Genetic predictors of lifelong medication-use patterns in cardiometabolic diseases
Nature Medicine, Janury
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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
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Ethical layering in AI-driven polygenic risk scores—New complexities, new challenges
Frontiers in Genetics, January
https://doi:10.3389/fgene.2023.1098439
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2022
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes
Cells, December
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Genome-wide risk prediction of common diseases across ancestries in one million people.
Cell genomics, April
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Informative Bayesian Neural Network Priors for Weak Signals
Bayesian Anal, December
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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
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Gene-Gene Interaction Detection with Deep Learning
Nature Communications, November
https://doi.org/10.1038/s42003-022-04186-y
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Multitask Balanced and Recalibrated Network for Medical Code Prediction
ACM Trans. Intell. Syst. Technol, November
https://doi.org/10.1145/3563041
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Systematic comparison of family history and polygenic risk across 24 common diseases
Am J Hum Genet, November
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Integrating transcriptomics, metabolomics, and GWAS helps reveal molecular mechanisms for metabolite levels and disease risk
Am J Hum Genet, October
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Multi-ancestry genome-wide association study of gestational diabetes mellitus highlights genetic links with type 2 diabetes
Hum Mol Genet, October
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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
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An explainable model of host genetic interactions linked to COVID-19 severity
Commun Biol. October
https://www.nature.com/articles/s42003-022-04073-6
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Reducing noisy annotations for depression estimation from facial images.
Neural Networks, September
https://doi.org/10.1016/j.neunet.2022.05.025
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Genetic risk factors have a substantial impact on healthy life years
Nature Medicine, September
https://doi.org/10.1038/s41591-022-01957-2
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Identifying interpretable gene-biomarker associations with functionally informed kernel-based tests in 190,000 exomes.
Nature Communications, September
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A cross-disorder dosage sensitivity map of the human genome
Cell, August
https://doi.org/10.1016/j.cell.2022.06.036
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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
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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
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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
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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
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The human genetic epidemiology of COVID-19.
Nat Rev Genet, May
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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
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Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19
Viruses, May
https://doi.org/10.3390/v14061185
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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
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Multi-scale local-global architecture for person re-identification
Soft Comput. March
https://doi.org/10.1007/s00500-022-06859-6
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Polygenic scores in biomedical research
Nat Rev Genet, March
https://doi.org/10.1038/s41576-022-00470-z
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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
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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
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Multiparametric platform for profiling lipid trafficking in human leukocytes
Cell Reports Methods, February
https://doi.org/10.1016/j.crmeth.2022.100166
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A Unified Review of Deep Learning for Automated Medical Coding
arXIv, January
https://doi.org/10.48550/arXiv.2201.02797
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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
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2021
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Does the magic of BERT apply to medical code assignment? A quantitative study
Comp Biol Med, October
10.1016/j.compbiomed.2021.104998
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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
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Mapping the human genetic architecture of COVID-19
Nature.
https://doi.org/10.1038/s41586-021-03767-x
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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
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Patient Outcome and Zero-shot Diagnosis Prediction with Hypernetwork-guided Multitask Learning
ArXiv
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Medical Code Assignment with Gated Convolution and Note-Code Interaction
ACL-IJCNLP 2021, April
10.18653/v1/2021.findings-acl.89
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A Survey on Knowledge Graphs: Representation, Acquisition and Applications
ArXiv, April
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