top of page

Publications

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

10.1186/s12931-023-02458-7

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

10.1038/s41562-023-01591-z

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

10.1038/s41591-022-02122-5

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

10.3390/cells11244096

Genome-wide risk prediction of common diseases across ancestries in one million people.

Cell genomics, April

10.1016/j.xgen.2022.100118

Informative Bayesian Neural Network Priors for Weak Signals

Bayesian Anal, December

DOI: 10.1214/21-BA1291

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

10.1016/j.ajhg.2022.10.009

Integrating transcriptomics, metabolomics, and GWAS helps reveal molecular mechanisms for metabolite levels and disease risk

Am J Hum Genet, October

10.1016/j.ajhg.2022.08.007

Multi-ancestry genome-wide association study of gestational diabetes mellitus highlights genetic links with type 2 diabetes

Hum Mol Genet, October 

10.1093/hmg/ddac050

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 

10.1038/s41467-022-32864-2

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

10.1038/s41431-022-01142-6 
 

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

10.1038/s41467-022-31188-5

 

Pathogen-sugar interactions revealed by universal saturation transfer analysis. 

Science, June

10.1126/science.abm3125 

The human genetic epidemiology of COVID-19.

Nat Rev Genet, May

10.1038/s41576-022-00478-5

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. 

Cell Genomics, January

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

10.48550/arxiv.2109.03062

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 

10.1109/TNNLS.2021.3070843

bottom of page