ASHG 2026 · Tier 1 Academic

University of Pennsylvania at ASHG 2026

Philadelphia, Pennsylvania

University of Pennsylvania at ASHG 2026 in Montréal: 44 presentations (37 posters, 4 platform talks, 2 lightning talks); 33 research groups.

44
presentations on the program
33
research groups identified
3
sessions invited to or moderated
6
Reviewers’ Choice abstracts

Explore everyone at ASHG 2026 →

OrganizationASHG 2026 Attendance
University of Pennsylvania
Philadelphia, Pennsylvania
20 PhD Students · 9 PIs · 6 Postdocs · 4 Staff Scientists
Pasaniuc Labmed.upenn.edu/bogdan-group
Dry lab~10 people
Analyzes biobank, electronic health record, RNA-seq and single-cell RNA-seq data with integrative genomics methods. Uses polygenic scoring and transcriptome-wide association studies for precision health.
114 papers since 2024
Developmental isoform diversity in the human neocortex informs neuropsychiatric risk mechanisms
Science, 2024
Temporally distinct 3D multi-omic dynamics in the developing human brain
Nature, 2024
Evaluating Performance and Agreement of Coronary Heart Disease Polygenic Risk Scores
JAMA, 2024
Source: OpenAlex author A5057630970
Funded by NIH/NLM
NIH/NLM, Biomedical Data Science Training Program for Precision Health Equity (T15-LM013976) · 2022-2027
“NIH-funded training programs such as the NIH/NLM-T15 training program Biomedical Data Science Training Program for Precision Health Equity at UCLA.”
Source: lab pages
10 platforms and techniques
Analyzes
RNA-seq, single-cell RNA-seq, low-coverage sequencing, H3K27ac HiChIP
Techniques
polygenic scoring, transcriptome-wide association studies, probabilistic fine-mapping, local ancestry inference, cell-type deconvolution, SNP-heritability estimation
Source: lab pages
Currently hiring
“We are recruiting kind and motivated quantitatively oriented trainees at all levels (undergraduate, graduate and postdoctoral); contact Bogdan for details.”
Source: lab positions page
Poster
Wed Oct 21
2:30 pm
Multi-biobank characterization of strong APOL1 biallelic and monoallelic effects on end stage kidney disease
Complex Traits and Polygenic Disorders
Genetic epidemiologyGenotype-phenotype correlationsLarge-scale biobanksPhenome-wide association
Poster
Wed Oct 21
2:30 pm
Contextual drivers of PGS portability for breast cancer (BC) and coronary heart disease (CHD) across seven large-scale biobanks and cohorts
Complex Traits and Polygenic Disorders
Collaborators: Massachusetts General Hospital, Vanderbilt University Medical Center +8 more
Complex diseasesDifferentiationLarge-scale biobanksPolygenic risk score
Poster
Wed Oct 21
2:30 pm
Integration of polygenic risk with single cell methylation data using met-scDRS
Epigenomics
MethylationMethodologySingle-cellPsychiatric genetics
Poster
Fri Oct 23
2:30 pm
Phenome-wide genetic analysis of pediatric disorders in the Arcus biobank
Statistical Genetics and Genetic Epidemiology
Genome-wide association studyPhenome-wide associationLarge-scale biobanksElectronic health records
Wang Labwglab.org
Wet + dry lab
Develops AI and bioinformatics methods for EHR, whole-genome/exome, PacBio, Oxford Nanopore and single-cell long-read RNA-seq data. Targets rare-disease diagnosis, genome reinterpretation and precision genomic medicine.
14 platforms and techniques
Works with
Oxford Nanopore sequencing, 10X Genomics, Parse Bioscience, PacBio long-read sequencing, Whole-genome sequencing, Whole-exome sequencing, RNA-Seq, Single-cell long-read RNA-Seq
Techniques
Machine learning and AI, Transformer models, Natural language processing, Long-range haplotype phasing, DNA modification detection, Differential isoform usage analysis
Source: lab pages
No funding stated · No openings posted
Poster
Wed Oct 21
2:30 pm
NIA Genetics of Alzheimer’s Disease Data Storage Site (NIAGADS): 2026 Update
Genetic, Genomic, and Epigenomic Resources and Databases
Collaborators: Lehigh University, Institute on Aging
Alzheimer’s diseaseDatabasesGenome-wide association studyGenomics
Poster
Thu Oct 22
4:15 pm
A machine learning model to classify a gene’s mode of inheritance using phenotype and age of onset information
Artificial Intelligence and Machine Learning
Collaborators: Children's Hospital of Philadelphia
BioinformaticsDiagnosticsGenotype-phenotype correlationsInheritance patterns
Poster
Thu Oct 22
4:15 pm
NIAGADS Open Access: Natural-Language Access to AD Genomic Evidence
Artificial Intelligence and Machine Learning
Alzheimer’s diseaseArtificial intelligenceGenetic variationDatabases
Poster
Thu Oct 22
4:15 pm
LongAllele: a joint inference framework for allele-specific analysis on long-read bulk and single-cell RNA sequencing
Statistical Genetics and Genetic Epidemiology
Collaborators: Children's Hospital of Philadelphia
Long-read sequencingHaplotypeAlternative splicingStatistical genetics
Setia-Verma Labsetia-vermalab.org
Dry lab~11 people
Uses machine learning on EHR data, genetic markers, environmental factors and clinical indicators. Builds prediction models for women’s health, including endometriosis and glaucoma.
10 papers since 2024
TRACE: A FINE-TUNED BIOMEDICAL LANGUAGE MODEL FOR DIRECTIONALLY INFORMED DRUG REPURPOSING FROM TRANSCRIPTOME-WIDE ASSOCIATION STUDIES
medRxiv, 2026
Integrating Imaging-Derived Clinical Endotypes with Plasma Proteomics and External Polygenic Risk Scores Enhances Coronary Microvascular Disease Risk Prediction †
medRxiv, 2025
Social Determinants of Health and Lifestyle Risk Factors Modulate Genetic Susceptibility for Women’s Health Outcomes
Preprint or unlisted venue, 2024
Source: OpenAlex author A5023838189
Funded by National Institute of Child Health and Human Development (NICHD)
National Institute of Child Health and Human Development (NICHD), Comprehensive Predictive Modeling for Endometriosis Using Genetic and Non-Genetic Risk Factors · active
““Funded by the National Institute of Child Health and Human Development (NICHD), this project aims to develop an advanced predictive model for endometriosis.””
Source: lab pages
7 platforms and techniques
Analyzes
Electronic Health Records (EHR), High-resolution cardiac imaging
Techniques
Machine learning, Genome-wide association studies (GWAS), Polygenic risk scores, Deep phenotyping, Integrative omics
Source: lab pages
Currently hiring
““We are actively seeking post-doctoral fellows passionate about conducting research in EHR genomics and women's health.””
Source: lab positions page
Poster
Wed Oct 21
2:30 pm
Multimodal models integrating rare variants and unstructured EHR features identify endometriosis with AUROC ~0.80 in a chart-reviewed biobank cohort
Artificial Intelligence and Machine Learning
GenomicsPolygenic risk scoreWomen's healthRisk assessment
Poster
Thu Oct 22
4:15 pm
Integrating Clinically Actionable Endophenotypes into Polygenic Risk Scores Enhances Prediction and Early detection of Primary Open-Angle Glaucoma in African Ancestry Individuals
Statistical Genetics and Genetic Epidemiology
BioinformaticsComputational toolsGenome-wide association studyLarge-scale biobanks
Poster
Thu Oct 22
4:15 pm
Is “PMS-ing” Genetic? Assessing Genetic Risk of Premenstrual Conditions in Women who Ovulate
Prenatal, Perinatal, Reproductive, and Developmental Genetics
Reproductive geneticsWomen's healthGenomicsLarge-scale biobanks
Guo Labguo-laboratory.com/lab-members
Wet + dry lab~6 people
Studies Alzheimer’s genetics using genetic fine-mapping, single-cell DNA sequencing, bulk long-read DNA sequencing and genome engineering in cellular models. Develops computational diagnostics for neurogenetic conditions.
11 papers since 2024
Polygenic burden of short tandem repeat expansions promotes risk for Alzheimer’s disease
Nature Communications, 2025
Disparities in Genetic Testing for Neurologic Disorders
Neurology, 2024
Ischemic stroke associated with amyloid‐related imaging abnormalities in a patient treated with lecanemab
Alzheimer s & Dementia, 2024
Source: OpenAlex author A5065978633
8 platforms and techniques
Runs
single-cell DNA sequencing, bulk long-read DNA sequencing
Techniques
genetic fine-mapping, genome engineering, short tandem repeat analysis, single-cell eQTL mapping, computational neurogenetic diagnostics, cellular models of disease
Source: lab pages
Currently hiring
“We are recruiting team members at all levels.”
Source: lab positions page
No funding stated
Poster
Thu Oct 22
4:15 pm
Conditional Single-Cell eQTLs Reveal Hidden Regulatory Mechanisms Underlying Brain Disease GWAS Signals
Molecular Effects of Genetic Variation
Alzheimer’s diseaseExpression quantitative trait lociSingle-cellGenome-wide association study
Poster
Fri Oct 23
2:30 pm
Cell type–specific loss of the Y chromosome in the aging brain
Complex Traits and Polygenic Disorders
Alzheimer’s diseaseChromosomal abnormalitiesMosaicism
Laboratory for Statistical and Translational Genomicstransgen.med.upenn.edu/…
Dry lab~14 people
Uses statistical and computational methods on scRNA-seq, CITE-seq and spatial transcriptomics data. Studies cellular heterogeneity, cell state transition and disease susceptibility genes for clinical translation.
43 papers since 2024
Inferring super-resolution tissue architecture by integrating spatial transcriptomics with histology
Nature Biotechnology, 2024
Spatially exploring RNA biology in archival formalin-fixed paraffin-embedded tissues
Cell, 2024
High-Dimensional Single-Cell Multimodal Landscape of Human Carotid Atherosclerosis
Arteriosclerosis Thrombosis and Vascular Biology, 2024
Source: OpenAlex author A5001685590
9 platforms and techniques
Analyzes
scRNA-seq, CITE-seq, spatial transcriptomics, bulk RNA-seq
Techniques
deep learning, cell type deconvolution, graph convolutional networks, batch-effect correction, histology-image integration
Source: lab pages
Currently hiring
“We are always interested in recruiting talented graduate students and postdoctoral fellows to join our group.”
Source: lab positions page
No funding stated
Poster
Wed Oct 21
2:30 pm
Reconstructing multi-scale tissue spatial architecture from single-cell RNA-seq with REMAP
Artificial Intelligence and Machine Learning
Spatial transcriptomicsSingle-cellRNA-seqGenomics
Poster
Fri Oct 23
2:30 pm
Cross-Modality Alignment of Spatial Transcriptomics, Multiplexed Imaging, and Histology with PHARAOH
Omics Technologies
Collaborators: Technical University of Munich, German Centre for Cardiovascular Research +1 more
Multi-omicsComputational toolsSpatial transcriptomicsMethodology
Verma Labgithub.com/Verma-Lab
Dry lab
Analyzes biobank/EHR, CT/MRI, echocardiography, cardiac MRI, ECG, GWAS and exome-wide data. Uses Penn Medicine BioBank and other biobanks for genetic-risk prediction and clinical AI.
59 papers since 2024
Kidney multiome-based genetic scorecard reveals convergent coding and regulatory variants
Science, 2025
Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program
Science, 2024
A deep catalogue of protein-coding variation in 983,578 individuals
Nature, 2024
Source: OpenAlex author A5012994745
16 platforms and techniques
Analyzes
Whole-exome sequencing (WES), Whole-genome sequencing (WGS), Clinical CT, Clinical MRI, Echocardiography, Cardiac MRI, ECG, Electronic health records (EHR)
Techniques
Multi-ancestry GWAS, PheWAS, Exome-wide association studies, Rare-variant burden testing, Statistical fine-mapping, Polygenic risk scores, Deep learning, LLM agents
Source: lab pages
No funding stated · No openings posted
Poster
Thu Oct 22
4:15 pm
Leveraging AI-Derived CT Phenotypes to Identify Sex-Specific Genetic Loci for Hepatic Fat in the Penn Medicine BioBank
Artificial Intelligence and Machine Learning
Genome-wide association studyLarge-scale biobanksArtificial intelligenceExpression quantitative trait loci
Poster
Thu Oct 22
4:15 pm
Global Pleiotropy Networks Enhance Phenome-wide Polygenic Risk Prediction with Greater Gains in African Ancestry Individuals
Complex Traits and Polygenic Disorders
Collaborators: Broad Institute
Genotype-phenotype correlationsGenomicsPhenome-wide associationPolygenic risk score
Penn Telegenetics Programchti.upenn.edu/penn-telegenetics-program
~4 people
Provides genetic testing and counseling by telephone or video conferencing. Serves patients nationwide, community settings without genetic services, and large clinical trials.
52 papers since 2024
Clinical management of TP53 mosaic variants found on germline genetic testing
Cancer Genetics, 2024
The ENGAGE study: a 3-arm randomized hybrid type 1 effectiveness and implementation study of an in-home, collaborative PCP model of remote telegenetic services to increase uptake of cancer genetic services in childhood cancer survivors
BMC Health Services Research, 2024
Test-takers’ perspectives on consumer genetic testing for hereditary cancer risk
Frontiers in Genetics, 2024
Source: OpenAlex author A5041518416
Funded by Innovation Accelerator Program, National Institutes of Health +3 more
Innovation Accelerator Program · active
“Innovation Accelerator Program”
National Institutes of Health · active
“National Institutes of Health”
National Cancer Institue · active
“National Cancer Institue”
+2 more on the lab page
Source: lab pages
5 platforms and techniques
Runs
Telephone, Video conferencing
Techniques
Remote genetic counseling, Multi-gene germline testing, Randomized telehealth trials
Source: lab pages
No openings posted
Talk
Wed Oct 21
1:30 pm
Final results of a randomized non-inferiority trial evaluating digital return of actionable genetic research results as compared to return by a genetic counselor (RESPECT3)
Advances in Clinical Genomics in the Era of AI, Long-Read Sequencing, Precision Medicine, and Genomic Care Delivery
Collaborators: Temple University, Columbia University
Ethical, legal, and social implicationsGenetic counselingGenetic testingLarge-scale biobanks
Poster
Fri Oct 23
2:30 pm
★ Reviewers’ Choice
Final results of a randomized non-inferiority trial evaluating digital return of actionable genetic research results as compared to return by a genetic counselor (RESPECT3)
Genetic Counseling, ELSI, and Education
Collaborators: Temple University, Columbia University
Ethical, legal, and social implicationsGenetic counselingGenetic testingLarge-scale biobanks
Shen Labmed.upenn.edu/shenlab
Dry lab~34 people
Develops informatics, computing and data science methods for genetics, omics, imaging, biomarker, outcome and EHR data. Applies advanced AI to biobank and health datasets.
156 papers since 2024
Frequency and Clinical Outcomes Associated With Tau Positron Emission Tomography Positivity
JAMA, 2025
The genetic architecture of multimodal human brain age
Nature Communications, 2024
Gene-SGAN: discovering disease subtypes with imaging and genetic signatures via multi-view weakly-supervised deep clustering
Nature Communications, 2024
Source: OpenAlex author A5100333320
Funded by NIA, MassAITC +14 more
NIA, U01 AG068057 · active
“This U01 renewal project (U01 AG068057)”
MassAITC, pilot; NIA P30 AG073107 · active
“Supported by a MassAITC pilot (NIA P30 AG073107)”
NLM, R01 LM014731 · active
The NIH's standard multi-year research project grant.
“This project, supported by an NLM R01 award (R01 LM014731)”
+13 more on the lab page
Source: lab pages
16 platforms and techniques
Analyzes
MRI, PET, CT, Next-generation sequencing (NGS), EHRs, Smartphone images/videos, Wearable sensor streams, Heart-failure monitoring socks
Techniques
Machine learning, Deep learning, Natural language processing, Large language models, Knowledge graphs, Genome-wide association studies, Structured sparse canonical correlation analysis, SPHARM shape modeling
Source: lab pages
Currently hiring
“We are looking for highly motivated students and scholars to work with our group”
Source: lab positions page
Talk
Wed Oct 21
1:55 pm
Sex-stratified analysis uncovers sex-dimorphic genetic modifiers of cardiac structure and function
Decoding Genetic Risk Across Ancestry and Sex in Polygenic Disorders
Cardiovascular systemGenome-wide association studyLarge-scale biobanksComplex traits
Poster
Wed Oct 21
2:30 pm
★ Reviewers’ Choice
Sex-stratified analysis uncovers sex-dimorphic genetic modifiers of cardiac structure and function
Complex Traits and Polygenic Disorders
Cardiovascular systemComplex traitsGenetic epidemiologyGenome-wide association study
Tishkoff Labmed.upenn.edu/tishkoff
Wet + dry lab~18 people
Studies African populations with genomic, proteomic, epigenetic, transcriptomic, metabolomic, microbiome and single-cell RNA and ATAC data. Research targets adaptation, disease risk and immune variation.
14 papers since 2024
Sequencing in over 50,000 cases identifies coding and structural variation underlying atrial fibrillation risk
Nature Genetics, 2025
A statistical framework for multi-trait rare variant analysis in large-scale whole-genome sequencing studies
Nature Computational Science, 2025
Deciphering the impact of genomic variation on function
Nature, 2024
Source: OpenAlex author A5080098465
Funded by Chan Zuckerberg Institute
Chan Zuckerberg Institute, Human Cell Atlas Consortium · active
Philanthropic science funding from the Chan Zuckerberg Initiative.
“As part of the Chan Zuckerberg Institute funded Human Cell Atlas Consortium, we are generating an African Immune Cell Atlas.”
Source: lab pages
5 platforms and techniques
Runs
single-cell RNA sequencing, single-cell ATAC sequencing, massively parallel reporter assays
Techniques
chromatin capture-based techniques, CRISPR/Cas9 editing
Source: lab pages
No openings posted
Talk
Wed Oct 21
11:30 am
Heterogeneous selection signatures across West & Central African populations are associated with cardiometabolic, immune, and renal disease burden in African-ancestry populations
Detecting Human Adaptation: Methods, Drivers, and Health Impacts of Natural Selection
Collaborators: Vanderbilt University Medical Center, Sapienza University of Rome +6 more
Identification of disease genesLarge-scale biobanksNatural selectionPhenome-wide association
Attendee
in“Looking forward to an exciting ASHG meeting in beautiful Montreal!”
Basser Center for BRCAbasser.org
Wet lab~61 people
Studies BRCA1/2 gene mutations in basic, clinical and translational cancer research. Focuses on cancer interception, early detection and care for mutation carriers.
Funded by Gray Foundation, Basser Center for BRCA +1 more
Basser Center for BRCA, Internal Research Grant Program · 2026
“Funding begins on July 1, 2026.”
Basser Center for BRCA, External Research Grant Program · 2026
“The 2026 Basser Center external grant program is temporarily delayed until later in 2026.”
Gray Foundation, Gray Foundation Grants · active
“Basser Center founding donors, Mindy and Jon Gray, have established the Gray Foundation.”
Source: lab pages
7 platforms and techniques
Techniques
genetic testing, basic laboratory research, multi-modal AI tool, hyperpolarized C-13 imaging, shallow whole genome sequencing, deep learning model, induced pluripotent stem cells (iPSC)
Source: lab pages
No openings posted
Poster
Thu Oct 22
4:15 pm
Characteristics of germline genetic testing and cancer diagnoses among a single-institution cohort of male BRCA1/2 carriers
Cancer
Collaborators: Abramson Cancer Center
BehaviorCancerCharacterization of syndromesClinical testing
Center for Applied Genomicsresearch.chop.edu/center-for-applied-genomics
Wet + dry lab~56 people
Runs 10X Chromium, Illumina and PacBio sequencing, genotyping, and biorepository services. Studies pediatric rare and complex disorders to develop diagnostics and therapies.
155 papers since 2024
Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations
Nature Medicine, 2024
Dependency-aware deep generative models for multitasking analysis of spatial omics data
Nature Methods, 2024
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
Nature Neuroscience, 2024
Source: OpenAlex author A5088244425
Funded by National Institutes of Health, Children’s Hospital of Philadelphia
National Institutes of Health · active
“The Center for Applied Genomics (CAG) at Children's Hospital of Philadelphia is one of 10 sites that receives funds from the National Institutes of Health”
Children’s Hospital of Philadelphia · active
“He leads a $40 million commitment from Children’s Hospital of Philadelphia to genomically characterize approximately 100,000 children”
Source: lab pages
15 platforms and techniques
Runs
Illumina NovaSeq, Illumina MiSeq, 10X Chromium systems, PacBio, Oxford Nanopore long-range sequencing, Bionano, WES, WGS
Techniques
single-cell sequencing, genotyping, Sanger sequencing, TaqMan, RNA-seq, ChIP-seq, long-read sequencing
Source: lab pages
No openings posted
Poster
Wed Oct 21
2:30 pm
★ Reviewers’ Choice
Integrative Multi-Omics and Deep Learning Analysis Identifies NETO1 as a Cross-Ancestry Risk Gene in Neurodevelopmental Disorders
Complex Traits and Polygenic Disorders
Collaborators: Children's Hospital of Philadelphia, Tianjin Medical University
Deep learningGenome-wide association studyNeurodevelopmentalPharmacogenomics
Chesi Labchesilab.notion.site/Welcome-to-the-Chesi-Lab-at-UPenn-70dc9b8416e947f9922bcdffe61eec4a
Wet + dry lab~9 people
Uses Capture C, Hi-C, ATAC-seq, ChIP-seq and RNA-seq with CRISPR/Cas9 in iPSC-derived neurons and cerebral organoids. Maps variants to genes in neurodegenerative disorders.
41 papers since 2024
White Matter Abnormalities and Cognition in Aging and Alzheimer Disease
JAMA Neurology, 2025
Polygenic prediction of body mass index and obesity through the life course and across ancestries
Nature Medicine, 2025
Variant-to-function analysis of the childhood obesity chr12q13 locus implicates rs7132908 as a causal variant within the 3′ UTR of FAIM2
Cell Genomics, 2024
Source: OpenAlex author A5015929929
14 platforms and techniques
Runs
Capture C, Hi-C, ATAC-seq, ChIP-seq, RNA-seq, single-cell RNA sequencing
Techniques
CRISPR/Cas9 editing, pooled CRISPRa/i screens, iPSC-derived neurons, microglia, astrocytes, co-cultures, cerebral organoids, drug screens
Source: lab pages
No funding stated · No openings posted
Poster
Wed Oct 21
2:30 pm
Integrated chromatin, transcriptomic, and 3D genome profiling of ReNcell VM differentiation prioritizes effector genes for dopaminergic neuropsychiatric and behavioral traits
Complex Traits and Polygenic Disorders
Complex traitsGene regulationGenome-wide association studyGenomics
Drivas Labdrivaslab.org
Wet + dry lab~11 people
Analyzes EHR-linked genotyping arrays and exome sequencing from medical biobanks, then validates findings in cell models. Focuses on primary-cilium disorders and human disease mechanisms.
35 papers since 2024
Kidney multiome-based genetic scorecard reveals convergent coding and regulatory variants
Science, 2025
A deep catalogue of protein-coding variation in 983,578 individuals
Nature, 2024
Evaluating Performance and Agreement of Coronary Heart Disease Polygenic Risk Scores
JAMA, 2024
Source: OpenAlex author A5073553407
9 platforms and techniques
Analyzes
Genotyping arrays, Exome sequencing
Techniques
PheWAS, Engineered reporter cell lines, Signaling assays, Immunoblotting/ELISAs, Live-cell imaging, RNA-seq, Stem cell models
Source: lab pages
Currently hiring
“The Drivas lab has openings immediately available for both computational and wet lab trained postdoctoral fellows.”
Source: lab positions page
No funding stated
Poster
Fri Oct 23
2:30 pm
★ Reviewers’ Choice
Finding signal in the noise: machine learning-driven disease gene discovery using latent phenotypic fingerprints across the biobank phenome – application to the primary cilium
Artificial Intelligence and Machine Learning
Large-scale biobanksCiliopathiesMachine learningBioinformatics
Genomics and Computational Biologymed.upenn.edu/gcb/student-directory
Wet + dry lab~217 people
Trains students in computational and experimental genomics using long-read RNA sequencing, spatial transcriptomics and electronic health records. Studies human disease, evolution and biomedical research.
Funded by National Science Foundation, National Institutes of Health
National Science Foundation · active
“applicants are encouraged to apply for scholarships from prestigious funding sources such as the National Science Foundation and the National Institutes of Health.”
National Institutes of Health · active
“applicants are encouraged to apply for scholarships from prestigious funding sources such as the National Science Foundation and the National Institutes of Health.”
Source: lab pages
12 platforms and techniques
Analyzes
long-read RNA sequencing, spatial transcriptomics, single-cell methylome, spatial multi-omics, electronic health records
Techniques
machine learning, genome-wide association studies, computational pathology, biomedical knowledge graphs, polygenic scores, multi-modal lineage tracing, deep learning
Source: lab pages
No openings posted
Poster
Fri Oct 23
2:30 pm
★ Reviewers’ Choice
A genome-first approach to rare protein-altering variants in Lynch syndrome genes in the Penn Medicine Biobank
Statistical Genetics and Genetic Epidemiology
Statistical geneticsRare variantsPhenome-wide associationGenetic counseling
Graduate Group in Epidemiology and Biostatisticsmed.upenn.edu/ggeb
Dry lab~169 people
Develops statistical methods for biomedical data, including imaging and genetic studies. Trains investigators in clinical trials, cohort studies and statistical computing.
Funded by Individual Research Fellowships (Students), Individual Research Fellowships (Students)
Individual Research Fellowships (Students), 1-F31-AG-091981-01A1; Genetic and Environmental Sources of Heterogeneity in Alzheimer's Disease: A Pathway Specific Approach · active
“[name] - 1-F31-AG-091981-01A1: Genetic and Environmental Sources of Heterogeneity in Alzheimer's Disease: A Pathway Specific Approach”
Individual Research Fellowships (Students), 5-F31-LM-014282-03; Addressing Algorithmic Unreliability and Dataset Shift in EHR-based Risk Prediction Models · active
“Likhitha Kolla - 5-F31-LM-014282-03: Addressing Algorithmic Unreliability and Dataset Shift in EHR-based Risk Prediction Models”
Source: lab pages
8 platforms and techniques
Techniques
randomized clinical trials, cohort studies, case-control studies, surveys, quasi-experiments, statistical computing, applied data analysis, statistical genetics and bioinformatics
Source: lab pages
No openings posted
Poster
Thu Oct 22
4:15 pm
Integrative variant-to-gene annotation in multi-ancestry Alzheimer's disease pathway-specific polygenic risk scores
Statistical Genetics and Genetic Epidemiology
Polygenic risk scoreGene regulationAlzheimer’s diseasePopulation structure
Huang Labmed.upenn.edu/achuanglab
Wet + dry lab~20 people
Studies cancer immunotherapy using flow cytometry, transcriptional approaches and spatial transcriptomics. Examines checkpoint blockade responses in melanoma, Merkel cell carcinoma and renal cell carcinoma.
64 papers since 2024
Combined JAK inhibition and PD-1 immunotherapy for non–small cell lung cancer patients
Science, 2024
Combination anti-PD-1 and anti-CTLA-4 therapy generates waves of clonal responses that include progenitor-exhausted CD8+ T cells
Cancer Cell, 2024
LAG-3 sustains TOX expression and regulates the CD94/NKG2-Qa-1b axis to govern exhausted CD8 T cell NK receptor expression and cytotoxicity
Cell, 2024
Source: OpenAlex author A5081974951
6 platforms and techniques
Works with
flow cytometry, spatial transcriptomics
Techniques
checkpoint blockade, neoadjuvant clinical trials, anti-PD-1 immunotherapy pharmacodynamics, advanced computational analysis
Source: lab pages
No funding stated · No openings posted
Poster
Fri Oct 23
2:30 pm
Spatial Transcriptomics and Immunophenotyping of Mismatch Repair-Deficient Colonic Crypts Reveals T Cell-Mediated Immunosurveillance and Preneoplastic Transcriptional Alterations in Lynch Syndrome
Cancer
Cancer syndromesTranslational studies and preclinical trialsGastrointestinal systemSpatial transcriptomics
Informatics Divisiondbei.med.upenn.edu/divisions/informatics
Dry lab~49 people
Develops AI, machine-learning, NLP and data-integration methods for EHRs, imaging, omics and wearable-sensor data. Applies them to precision medicine, population health and clinical care.
156 papers since 2024
Frequency and Clinical Outcomes Associated With Tau Positron Emission Tomography Positivity
JAMA, 2025
The genetic architecture of multimodal human brain age
Nature Communications, 2024
Gene-SGAN: discovering disease subtypes with imaging and genetic signatures via multi-view weakly-supervised deep clustering
Nature Communications, 2024
Source: OpenAlex author A5100333320
13 platforms and techniques
Analyzes
electronic health records (EHRs), health claims, imaging data, single-cell genomics, metagenomics, wearable sensors, patient-generated platforms
Techniques
artificial intelligence and machine learning, natural language processing, causal inference, genome-wide association studies, polygenic risk scores, clinical decision support systems
Source: lab pages
Currently hiring
“Explore available faculty and staff positions in the Division of Informatics and the department.”
Source: lab positions page
No funding stated
Poster
Thu Oct 22
4:15 pm
Graph Modeling of Pediatric Pharmacogenomic and EHR Data Reveals Structured Multi-Gene Co-Actionability Patterns
Pharmacogenomics
Collaborators: Children's Hospital of Philadelphia, Medical University of South Carolina
BioinformaticsClinical geneticsElectronic health recordsMachine learning
Institute for Biomedical Informatics (IBI)events.med.upenn.edu/ibi
Dry lab
Develops AI, machine-learning and NLP infrastructure for EHR, TriNetX, Epic Cosmos and Epic Clarity data. Serves Penn Medicine clinical, translational and basic research.
59 papers since 2024
Kidney multiome-based genetic scorecard reveals convergent coding and regulatory variants
Science, 2025
Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program
Science, 2024
A deep catalogue of protein-coding variation in 983,578 individuals
Nature, 2024
Source: OpenAlex author A5012994745
Funded by NIH
NIH · active
“helped the funding of multiple NIH grants”
Source: lab pages
10 platforms and techniques
Analyzes
Electronic health record (EHR), TriNetX, Epic Cosmos, Epic Clarity
Techniques
Artificial intelligence, Natural language processing (NLP), Ontologies, Machine learning, Visual analytics, Data integration
Source: lab pages
No openings posted
Talk
Thu Oct 22
1:45 pm
A multimodal agentic knowledge graph system for screening undiagnosed transthyretin amyloid cardiomyopathy
EHR-Based Computational and AI Approaches in Clinical Genetics
Artificial intelligenceBioinformaticsCardiovascular systemDiagnostics
Integrative Omics & Biomedical Informatics Laboratorybiomedinfolab.com
Dry lab~21 people
Integrates multi-omics, imaging and EHR phenotype data with machine learning and deep learning. Uses these methods for precision medicine and translational informatics.
62 papers since 2024
Addressing biomedical data challenges and opportunities to inform a large-scale data lifecycle for enhanced data sharing, interoperability, analysis, and collaboration across stakeholders
Scientific Reports, 2025
Harnessing Artificial Intelligence in Multimodal Omics Data Integration: Paving the Path for the Next Frontier in Precision Medicine
Annual Review of Biomedical Data Science, 2024
Effect of virtual reality-based biofeedback for depressive and anxiety symptoms: Randomized controlled study
Journal of Affective Disorders, 2024
Source: OpenAlex author A5078473635
Funded by NIH/NHLBI, NIH/NIA +3 more
NIH/NHLBI, R01 · active
The NIH's standard multi-year research project grant.
“[name] has received an R01 grant as MPI from the NIH/NHLBI”
NIH/NIA, R01 · active
The NIH's standard multi-year research project grant.
“[name] has received an R01 grant as MPI from the NIH/NIA”
NIH/NIGMS, R01 · active
The NIH's standard multi-year research project grant.
“[name] has received an R01 grant as a contact PI from the NIH/NIGMS”
+2 more on the lab page
Source: lab pages
15 platforms and techniques
Analyzes
Single-cell cytometry datasets, 3D unenhanced abdominal CT scans, H&E image datasets, Histology whole-slide images, Retinal photographs, Serum lipidomics, Hail VariantDataset
Techniques
Multi-omics data integration, Polygenic risk scores, Graph-based machine learning, Knowledge graph embedding, Self-supervised learning, Phenome-wide association studies, Mendelian randomization, Digital pathology
Source: lab pages
Currently hiring
“Rotating students from GCB or GGEB are welcome to join the Kim lab”
Source: lab positions page
Poster
Fri Oct 23
2:30 pm
★ Reviewers’ Choice
Biobank-scale genomic analysis of quantitative CT image-derived phenotypes links complex disease risk variants to organ traits
Statistical Genetics and Genetic Epidemiology
Genome-wide association studyGenotype-phenotype correlationsMachine learningQuantitative trait
Katsevich Labkatsevich-lab.github.io
Dry lab~6 people
Develops statistical methodologies for single-cell CRISPR screens and single-cell multi-omics data. Uses them to study enhancer–gene regulation and human disease.
11 papers since 2024
Robust differential expression testing for single-cell CRISPR screens at low multiplicity of infection
Genome biology, 2024
Pooled CRISPR screens with joint single-nucleus chromatin accessibility and transcriptome profiling
Nature Biotechnology, 2024
GWAS-Informed data integration and non-coding CRISPRi screen illuminate genetic etiology of bone mineral density
bioRxiv (Cold Spring Harbor Laboratory), 2024
Source: OpenAlex author A5020452709
Funded by National Science Foundation, Analytics at Wharton
National Science Foundation · active
“We are grateful for funding from the National Science Foundation”
Analytics at Wharton · active
“We are grateful for funding from the National Science Foundation and Analytics at Wharton”
Source: lab pages
9 platforms and techniques
Analyzes
single cell CRISPR screens, single cell multi-omics data, Perturb-seq, single-cell RNA sequencing, single-cell chromatin accessibility and transcriptome profiling
Techniques
statistical methodologies, statistical theory, differential expression testing, genome-wide CRISPRi perturbations
Source: lab pages
No openings posted
Poster
Fri Oct 23
2:30 pm
PerturbPlan: An analytical framework for designing Perturb-seq experiments
Omics Technologies
Collaborators: Stanford University
Genome editing/CRISPRRNA-seqMethodologyGene regulation
Levin Lablevin-lab.org/index.html
Dry lab~1 people
Uses human genetics and bioinformatics to identify therapeutic targets and predict cardiovascular risk. Builds polygenic risk scores in deeply phenotyped biobank and clinical cohorts.
190 papers since 2024
Exploring the role of large language models in the scientific method: from hypothesis to discovery
npj Artificial Intelligence, 2025
AI is a viable alternative to high throughput screening: a 318-target study
Scientific Reports, 2024
Collective intelligence: A unifying concept for integrating biology across scales and substrates
Communications Biology, 2024
Source: OpenAlex author A5085228887
6 platforms and techniques
Techniques
bioinformatics, deep phenotyping, fine-mapping, colocalization, Mendelian randomization, polygenic risk scores
Source: lab pages
No funding stated · No openings posted
Poster
Wed Oct 21
2:30 pm
Genome-wide variance QTL mapping of spirometry traits links pulmonary function heterogeneity to COPD
Statistical Genetics and Genetic Epidemiology
Quantitative traitGenome-wide association studyGene environment interactionRespiratory system
Maxwell Labmed.upenn.edu/kmaxwelllab
Wet + dry lab~23 people
Studies BRCA1/2 and TP53 cancers using EM-seq, single-cell RNA sequencing, organoids and biobank data. Targets early detection and prostate-cancer genetics in Penn and VA cohorts.
141 papers since 2024
Update on Cancer Screening Recommendations for Individuals with Li–Fraumeni Syndrome
Clinical Cancer Research, 2025
BRCA1, BRCA2 , and Associated Cancer Risks and Management for Male Patients
JAMA Oncology, 2024
Update on Pediatric Cancer Surveillance Recommendations for Patients with Neurofibromatosis Type 1, Noonan Syndrome, CBL Syndrome, Costello Syndrome, and Related RASopathies
Clinical Cancer Research, 2024
Source: OpenAlex author A5061783891
Funded by Department of Defense, Basser Center for BRCA +3 more
Department of Defense · active
“Department of Defense”
Basser Center for BRCA · active
“Basser Center for BRCA”
VA ORD · active
“VA ORD”
+2 more on the lab page
Source: lab pages
15 platforms and techniques
Works with
Enzymatic methylation-sequencing (EM-seq), Single-cell RNA sequencing, Amplicon-based DNA sequencing, Bulk RNA sequencing, Targeted DNA sequencing, Whole-genome sequencing, SNP genotyping
Techniques
In vitro modeling, In vivo modeling, Organoid development, Patient-derived prostate organoid models, Western blot, RT-qPCR, Immunofluorescence, Organoid transfection
Source: lab pages
Currently hiring
“The Maxwell Lab is hiring a new CRC for Spring 2027.”
Source: lab positions page
Poster
Wed Oct 21
2:30 pm
Comparison of point-of-care genetic testing to standard practices in urology clinics
Health Services Research and Implementation Science
Collaborators: Abramson Cancer Center, University of Pennsylvania Health System
CancerClinical geneticsGenetic testing
Penn Medicine BioBankpmbb.med.upenn.edu
~51 people
Combines Penn patient samples with clinical, genetic and survey data, including whole-exome sequencing and genotyping-chip data. Supports precision medicine and disease research with Penn investigators.
11 platforms and techniques
Works with
whole-exome sequencing, genome-wide SNP arrays, genotype imputation, longitudinal electronic health records, CT scans
Techniques
polygenic risk scores, bioinformatics, deep learning, genome-first approach, phenome-wide association study, genome-wide association study
Source: lab pages
No funding stated · No openings posted
Symposium
Fri Oct 23
8:15 am
Introduction
Host-Pathogen Coevolution: Shaping Genetic Diversity and Disease Resistance
Penn Neurodegeneration Genomics Centermed.upenn.edu/pngc
Dry lab~27 people
Analyzes high-throughput genotyping, sequencing and tens of thousands of genomes. Supports ADSP, NIAGADS and Alzheimer’s disease gene discovery.
Funded by National Institutes of Health (NIH), National Institute on Aging (NIA)
National Institutes of Health (NIH), ADGC, CASA, CGAD, NIAGADS · active
“several NIH-funded projects (ADGC, CASA, CGAD, NIAGADS)”
National Institute on Aging (NIA), GCAD; U54-AG052427 · active
“a five-year/$10.8M U54 Cooperative Agreement/Specialized Center funded by NIA (U54-AG052427)”
Source: lab pages
12 platforms and techniques
Analyzes
High-throughput genotyping, Next-generation sequencing, Whole-exome sequencing, Targeted sequencing, RNA-seq, Single-cell sequencing
Techniques
Bioinformatics, Biostatistics, Data harmonization, Variant annotation, Sequencing pipelines, Algorithm development
Source: lab pages
Currently hiring
“available opportunities in the Penn Neurodegeneration Genomics Center”
Source: lab positions page
Poster
Wed Oct 21
2:30 pm
Multi-Allelic Association Reveals 6 Novel Loci in 36,361 Whole Genomes: the Alzheimer’s Disease Sequencing Project (ADSP)
Complex Traits and Polygenic Disorders
Collaborators: University of Miami, Boston University +1 more
Alzheimer’s diseaseGenome-wide association studyMassively parallel sequencingNeurodegeneration
Romano Labromanolab.org
Dry lab~10 people
Builds graph machine-learning models from electronic health records, biobanks, multi-omics datasets and Penn Medicine BioBank data. Studies disease mechanisms, women’s health and toxicology.
35 papers since 2024
Comparing Recent Pulsar Timing Array Results on the Nanohertz Stochastic Gravitational-wave Background
The Astrophysical Journal, 2024
Erratum: “The NANOGrav 15 yr Data Set: Search for Signals from New Physics” (2023, ApJL 951 L11)
The Astrophysical Journal Letters, 2024
Characterizing gravitational wave detector networks: from A ♯ to cosmic explorer
Classical and Quantum Gravity, 2024
Source: OpenAlex author A5106695492
Funded by NIH, NSF +2 more
NSF, 2500339: SCH: An intraoral device for multimodal data integration and risk modification connects the oral microbiome to systemic health · 2025-2029
“NSF [2500339]: SCH: An intraoral device for multimodal data integration and risk modification connects the oral microbiome to systemic health (2025-2029).”
NIH, OT2-OD040373: Genomic and exposomic factors in the cause and rise of autism · 2025-2028
“NIH [OT2-OD040373]: Genomic and exposomic factors in the cause and rise of autism (2025-2028).”
NIH/NLM, K99/R00-LM013646: Discovering clinical endpoints of toxicity via graph machine learning and semantic data analysis · 2021-2025
“NIH/NLM [K99/R00-LM013646]: Discovering clinical endpoints of toxicity via graph machine learning and semantic data analysis (2021-2025).”
+1 more on the lab page
Source: lab pages
15 platforms and techniques
Analyzes
electronic health records, Penn Medicine BioBank, dbSNP, NCBI Human Gene, Omics Pred, GTEx, Open Targets
Techniques
graph neural networks, QSAR modeling, knowledge graph construction, multimodal data integration, natural language processing, link prediction, protein and drug representation learning, differential gene expression analysis
Source: lab pages
Currently hiring
“We are always interested in hearing from motivated students and postdocs who share our research interests.”
Source: lab positions page
Poster
Thu Oct 22
4:15 pm
Beyond pathogenic and benign: A comprehensive analysis of ClinVar classification dynamics reveals systematic trends
Genetic, Genomic, and Epigenomic Resources and Databases
Collaborators: Broad Institute
Variant interpretationPrecision medicineClinical geneticsPopulation genetics
Vujković Labvujkoviclab.com
Dry lab~3 people
Analyzes GWAS and electronic health-record data with computational biology and clinical epidemiology. Studies cardiometabolic and liver disease for precision risk assessment and drug repurposing.
51 papers since 2024
Genetic drivers of heterogeneity in type 2 diabetes pathophysiology
Nature, 2024
Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis
Nature Genetics, 2024
A genome-first approach to variants in MLXIPL and their association with hepatic steatosis and plasma lipids
Hepatology Communications, 2024
Source: OpenAlex author A5007930206
Funded by NIH, Million Veteran Program
NIH · active
“Her NIH-funded research program aims to advance the understanding of genetics underlying obesity-induced diseases”
Million Veteran Program, Early Career Investigator Award · 2019
“in 2019 she received the Million Veteran Program Early Career Investigator Award.”
Source: lab pages
7 platforms and techniques
Analyzes
electronic health records, DNA methylation profiles
Techniques
genome-wide association studies (GWAS), polygenic risk scores, genomics-informed pharmaco-epidemiology, multi-omics integration, DNA methylation profiling
Source: lab pages
Currently hiring
“We are always seeking talented and motivated individuals to join our collaborative research environment.”
Source: lab positions page
Poster
Thu Oct 22
4:15 pm
Blood DNA Methylation Signatures Predict Incident All-Cause Liver Cirrhosis in the Million Veteran Program
Epigenomics
Collaborators: Philadelphia VA Medical Center, VA Palo Alto Health Care System +5 more
BioinformaticsEpigeneticsMulti-omics
Xing Laboratoryxinglab.org/people
Wet + dry lab~21 people
Develops computational and experimental methods for RNA processing using long-read RNA-seq, short-read RNA-seq and nanopore sequencing. Applies them to human genetics, diagnostics and cancer immunotherapy.
104 papers since 2024
Research progress and future prospects of chemical utilization of CO2
Chemical Engineering Journal, 2025
rMATS-turbo: an efficient and flexible computational tool for alternative splicing analysis of large-scale RNA-seq data
Nature Protocols, 2024
Spatially exploring RNA biology in archival formalin-fixed paraffin-embedded tissues
Cell, 2024
Source: OpenAlex author A5087568641
Funded by National Cancer Institute, National Cancer Institute +4 more
National Cancer Institute, Cancer Moonshot Immuno-Oncology Translation Network (IOTN); U01 · September 2018
“The NCI Cancer Moonshot Immuno-Oncology Translation Network (IOTN) funded our U01 grant proposal”
National Cancer Institute, R01 · March 2018
The NIH's standard multi-year research project grant.
“The National Cancer Institute funded our R01 grant proposal to study alternative isoform variation in prostate cancer.”
NIH, R01 · May 2017
The NIH's standard multi-year research project grant.
“is renewed by the NIH for four more years.”
+3 more on the lab page
Source: lab pages
11 platforms and techniques
Works with
long-read RNA-seq, short-read RNA-seq, TEQUILA-seq, nanopore long-read sequencing, single-cell long-read sequencing
Techniques
alternative splicing analysis, deep learning, machine learning, rolling circle amplification, m6A-LAIC-seq, IRIS
Source: lab pages
Currently hiring
“We have openings for motivated undergraduate and graduate students from various scientific disciplines”
Source: lab positions page
Talk
Fri Oct 23
11:15 am
Integrating long-read RNA sequencing with genomics and phenomics in a birth defects cohort to discover disease-relevant splice-altering variants
Splicing in Disease Etiology
Alternative splicingComplex diseasesLong-read sequencingMendelian disorder
Akizu Labmed.upenn.edu/akizulab
Wet + dry lab~10 people
Integrates human genetics with human pluripotent stem cells and animal models. Studies developmental brain disorders, neurodegeneration and treatments.
27 papers since 2024
Targeted therapy improves cellular dysfunction, ataxia, and seizure susceptibility in a model of a progressive myoclonus epilepsy
Cell Reports Medicine, 2024
KOLF2.1J iPSCs carry CNVs associated with neurodevelopmental disorders
Cell stem cell, 2024
Altered lipid homeostasis is associated with cerebellar neurodegeneration in SNX14 deficiency
JCI Insight, 2024
Source: OpenAlex author A5071166335
8 platforms and techniques
Analyzes
ChIPseq
Techniques
Human pluripotent stem cells, Animal models, Neuronal culture and engraftments, Metabolomics, Proteomics, Neuromuscular junction organoids, Drosophila melanogaster
Source: lab pages
Currently hiring
“We continuously seek to recruit motivated students”
Source: lab positions page
No funding stated
Musunuru Laboratorymed.upenn.edu/cvi/musunuru-laboratory.html
Wet lab~1 people
Uses CRISPR base editing, adult stem cells and mouse and monkey models. Develops gene editing therapies for cardiovascular and metabolic diseases.
30 papers since 2024
Patient-Specific In Vivo Gene Editing to Treat a Rare Genetic Disease
New England Journal of Medicine, 2025
Gene therapy and genome editing for lipoprotein disorders
European Heart Journal, 2025
Building Better Medicine: Translational Justice and the Quest for Equity in US Healthcare
The American Journal of Bioethics, 2025
Source: OpenAlex author A5040568538
Funded by NIH
NIH, U01 · active
““Received an U01 from NIH entitled ‘Personalized prime editing as a platform for hepatic inborn errors of metabolism’””
Source: lab pages
11 platforms and techniques
Works with
CRISPR base editing, Adenine base editors, Genome-edited cardiomyocytes, hiPSCs and derived hepatocyte-like cells, Exome-wide association studies
Techniques
CRISPR-Cas9 base editing, Prime editing, Adult stem-cell cardiomyocyte modeling, In vivo therapeutic gene editing, hiPSCs and hepatocyte-like cells, Mouse and monkey models
Source: lab pages
No openings posted
Tuteja Labmed.upenn.edu/tuteja-lab
Dry lab~5 people
Studies pharmacogenomics with EHR-linked DNA, Penn Medicine Biobank and Million Veteran Program data. Integrates pharmacogenetic testing into care and studies multiomic predictors of drug response.
23 papers since 2024
A Guide for Implementing DPYD Genotyping for Systemic Fluoropyrimidines into Clinical Practice
Clinical Pharmacology & Therapeutics, 2025
CYP2C19 Genetic Testing for Oral P2Y12 Inhibitor Therapy: A Scientific Statement From the American Heart Association
Circulation, 2024
The Pharmacogenomics Global Research Network Implementation Working Group: global collaboration to advance pharmacogenetic implementation
Pharmacogenetics and Genomics, 2024
Source: OpenAlex author A5021831441
Funded by Precision Medicine Accelerator Fund
Precision Medicine Accelerator Fund · active
“Learn more about Dr. [name]’s Precision Medicine Accelerator Fund Project.”
Source: lab pages
9 platforms and techniques
Analyzes
EHR-linked DNA repositories, Penn Medicine Biobank (PMBB), Veteran Affairs Million Veteran Program (MVP)
Techniques
Implementation science, Genetic association studies, Pharmacogenetic testing implementation, Genomics, Metabolomics, Metagenomics
Source: lab pages
No openings posted
Moderator
Fri Oct 23
8:15 am
Biomedical and Translational Informatics Laboratoryritchielab.org
Works in population genetics.
89 papers since 2024
Genetic drivers of heterogeneity in type 2 diabetes pathophysiology
Nature, 2024
A deep catalogue of protein-coding variation in 983,578 individuals
Nature, 2024
A multi-cohort genome-wide association study in African ancestry individuals reveals risk loci for primary open-angle glaucoma
Cell, 2024
Source: OpenAlex author A5081769614
Poster
Wed Oct 21
2:30 pm
Structural brain variation reflects coordinated genetic effects across glial biology, peripheral organ systems, and multi-system disease risk
Molecular Effects of Genetic Variation
Collaborators: Medical University of South Carolina
Brain/nervous systemComplex diseasesGenetic mappingGenetic variation
Rabadan Labrabadanlab.org/people-alumni
Works in population genetics.
Poster
Thu Oct 22
4:15 pm
Association between polygenic scores for psychiatric disorders and pain-related clinical phenotypes
Complex Traits and Polygenic Disorders
Psychiatric geneticsPolygenic risk scoreAnxietyDepression
Grant and Voight labs
Works in population genetics.
Talk
Thu Oct 22
9:00 am
Betanfer: Estimation of linkage disequilibrium from GWAS summary statistics enables large-scale cross-biobank fine mapping
From Labels to Landscapes: Leveraging Local Ancestry and the Ancestry Continuum to Maximize Cross-Ancestry Association
Collaborators: Argonne National Laboratory, University of Chicago +5 more
Genome-wide association studyGenetic mappingStatistical genetics
1 more presenter — research group not yet identified

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