Sang-Hyuk Jung

The genomics of metabolic syndrome in ~5 million people identifies over 1,300 associated loci, enrichment primarily in brain tissue, a refined polygenic risk score, an and relationship with various clinical conditions nature.com/articles/s4158… @NatureGenet @hongheeW

Happy to share that our new paper, 'Polygenic risk score-based phenome-wide association for glaucoma and its impact on disease susceptibility in two large biobanks,' is now published in the Journal of Translational Medicine. Paper: link.springer.com/article/10.118… #glaucoma #genetics

Thrilled to share another new paper, 'Association between genetic risk and adherence to healthy lifestyle for developing age-related hearing loss,' is out at BMC Medicine with Young Chan Lee and @dokyoon_kim. Paper: doi.org/10.1186/s12916… #genetics #hearingloss #lifestyle

Delighted to share our new paper, Polygenic risk score-based phenome-wide association study of head and neck cancer across two large biobanks, is out at BMC Medicine with Young Chan Lee and @dokyoon_kim. Paper: doi.org/10.1186/s12916…

Discovery of #polygenic #riskfactor-based associations between head and neck #cancer -> phenotypic traits (e.g. #alcoholism #smoking #respiratorydisease) Published in #BMCMedicine bit.ly/3THRtCX Data from #PennMedicineBiobank #UKBiobank @dokyoon_kim @PennMedicine

Excited to share our recent work: "#SingleCell Masked Autoencoder: An Accurate and Interpretable Automated Immunophenotyper" scMAE model transforms high-throughput single-cell cytometry, offering a scalable, robust, and precise immunophenotyping tool.@EJohnWherry @_ImmuneHealth_

@suhgoood presents "Improved #Alzheimers Disease Risk Prediction and Stratification through a Combined Genetic Risk Score of Common and Rare Variants". Catch this insightful talk in the "Genetic Analysis of Neurological Disorders" session at 1:45pm on 11/3. #ASHG23 @UPennGCB

Delighted to contribute to this Mendelian randomization paper led by @hongheeW raising the prospect of risks from vitamin over-supplementation particularly when deficiency does not exist bmcmedicine.biomedcentral.com/articles/10.11… @BMCMedicine

Discovering #comorbid diseases using an inter-disease interactivity network based on @uk_biobank #PheWAS data ft. Yonghyun Nam, @normal_hyuk, Jae-Seung Yun, @viveksrm24, @dokyoon_kim (@UPennDBEI/ @UPennIBI), @5inghalp & @_anuragverma (@PennGenetics) bit.ly/3XwyfAe

Happy to share our new paper, Genome-wide #PRS for Hypertensive Disease during Pregnancy can also Predict the Risk for Long-term Cardiovascular Disease, is out at @AJOG_thegray. Great job, Manu and Seung Mi! ajog.org/article/S0002-… #WomensHealth @UPennDBEI @UPennIBI @UPennGCB

We put together 14 cohorts and 13K samples to perform the largest multi-ethnic amyloid PET GWAS identifying four loci associated with brain amyloidosis and #Alzheimer disease risk. @WUADRC @WashUNeurology @Neuro_Genomics actaneurocomms.biomedcentral.com/articles/10.11…

ICD2Vec: Mathematical representation of diseases, is out in @JBI_Journal doi.org/10.1016/j.jbi.…

Genetic network structure of 13 psychiatric disorders in the general population pubmed.ncbi.nlm.nih.gov/37074466/?utm_…

I'd like to share a very cool review paper on interpreting deep learning (rdcu.be/c4u35), from @sara_mostafavi Lab. I think researchers should definitely try using the ideas summarized here in their own DL models to exploit what has been learned by NNs. 1/n

Happy to share that our paper, Discovering #comorbid diseases using an inter-disease interactivity network based on @uk_biobank #PheWAS data, is out in @OUPBioinfo. The predicted comorbidities were verified using EHR data. @UPennDBEI @UPennIBI academic.oup.com/bioinformatics…

A comprehensive investigation of statistical and machine learning approaches for predicting complex human diseases on genomic variants pubmed.ncbi.nlm.nih.gov/36585786/?utm_…

Transferability of Alzheimer Disease Polygenic Risk Score Across Populations and Its Association With Alzheimer Disease-Related Phenotypes ja.ma/3hvGWvq via @JAMANetworkOpen part of @JAMANetwork

Our new paper, Development and Validation of a Novel Prognostic Immune and Nutritional Index (PINI) for #ColonCancer is out at @BrJCancer. It'd be helpful for personalized treatment strategy as the complement of the TNM staging system. @UPennDBEI @UPennIBI nature.com/articles/s4141…

Daft Punk have announced their retirement via a video titled “Epilogue” posted to their YouTube this morning. Their publicist also confirmed the split to Variety. Thank you for 28 years of life-changing music.