ASHG 2026 · Tier 1 Academic

Emory University at ASHG 2026

Atlanta, Georgia

Emory University at ASHG 2026 in Montréal: 23 presentations (20 posters, 2 platform talks, 1 lightning talk); 12 research groups.

23
presentations on the program
12
research groups identified
4
sessions invited to or moderated
4
Reviewers’ Choice abstracts

Explore everyone at ASHG 2026 →

OrganizationASHG 2026 Attendance
Emory University
Atlanta, Georgia
14 PhD Students · 3 PIs · 2 Clinicians · 2 Staff Scientists
HERO-GENE Groupmed.aws.emory.edu/departments/medicine/divisions/rheumatology/research/labs/herogene.html
Dry lab~26 people
SELA studies SLE outcomes in African American women through epigenomic and transcriptomic changes. We aim to inform tailored and equitable treatments and interventions.
24 papers since 2024
Using implementation science to evaluate a population-wide genomic screening program: Findings from the first 20,000 In Our DNA SC participants
The American Journal of Human Genetics, 2024
The methodological and ethical concerns of genetic studies of same-sex sexual behavior
The American Journal of Human Genetics, 2024
Racial variability in immune responses only partially explains differential systemic sclerosis disease severity
Annals of the Rheumatic Diseases, 2024
Source: OpenAlex author A5100633287
8 platforms and techniques
Analyzes
epigenomic profiling, transcriptomic profiling
Techniques
molecular genetics, statistical genetics, population genetics, genetic epidemiology, social epigenomics, X-chromosome inactivation escape analysis
Source: lab pages
No funding stated · No openings posted
Poster
Wed Oct 21
2:30 pm
Preliminary analysis of escape from X-chromosome inactivation (XCI) in pediatric autoimmune disease.
Epigenomics
Collaborators: University of Pennsylvania, Wake Forest University +1 more
Autoimmune disorderGene regulationRNA-seqSingle-cell
Poster
Wed Oct 21
2:30 pm
Partnering to build understanding of genomics responsibly: the PREFER CHW research education program
Genetic Counseling, ELSI, and Education
Collaborators: Clemson University, Wake Forest University +4 more
Education
Poster
Thu Oct 22
4:15 pm
Single-cell transcriptomics reveals X-chromosome inactivation escape drives female-biased structural damage in lupus nephritis
Epigenomics
Collaborators: University of Oklahoma Health Sciences Center, University of Pennsylvania +1 more
Autoimmune disorderGene regulationRNA-seqSingle-cell
Poster
Fri Oct 23
2:30 pm
Sex-biased X-chromosomal expression in lupus immune cells is consistent with X-chromosome inactivation escape and ribonucleoprotein dysregulation
Epigenomics
Collaborators: University of California, San Francisco, University of Pennsylvania +2 more
Autoimmune disorderRNA-seqSingle-cellWomen's health
Weinstock Labweinstocklab.org
Dry lab~3 people
Analyzes whole-genome sequencing of blood and pooled high-content CRISPR screens with statistical and machine learning methods. Studies clonal hematopoiesis, gene regulatory networks and disease prediction.
25 papers since 2024
Cross-cohort analysis of expression and splicing quantitative trait loci in TOPMed
Science, 2026
Epigenetic and proteomic signatures associate with clonal hematopoiesis expansion rate
Nature Aging, 2024
Gene regulatory network inference from CRISPR perturbations in primary CD4+ T cells elucidates the genomic basis of immune disease
Cell Genomics, 2024
Source: OpenAlex author A5057701209
6 platforms and techniques
Analyzes
Whole-genome sequencing (WGS) of blood, Pooled high-content CRISPR screens
Techniques
Genome-wide association studies, Statistical modeling, Machine learning, Polygenic risk score modeling
Source: lab pages
Currently hiring
“We are now open and hiring at all levels!”
Source: lab positions page
No funding stated
Talk
Wed Oct 21
2:03 pm
The genetic architecture of somatic passenger mutation burden in clonal hematopoiesis
Advances in Population Genetics, Genetic Epidemiology, and Omics
Statistical geneticsGenome-wide association studyHematopoietic systemSomatic variants
Poster
Wed Oct 21
2:30 pm
Multi-omic analysis of clonal hematopoiesis of indeterminate potential identifies JAK2-associated lipid and inflammatory signatures in the UK Biobank
Molecular Effects of Genetic Variation
BioinformaticsMetabolomicsMulti-omicsProteomics
Moderator
Thu Oct 22
8:15 am
Poster
Thu Oct 22
4:15 pm
★ Reviewers’ Choice
The genetic architecture of somatic passenger mutation burden in clonal hematopoiesis
Statistical Genetics and Genetic Epidemiology
Genome-wide association studyHematopoietic systemPopulation geneticsSomatic variants
Talk
Sat Oct 24
10:00 am
Genotype imputation and functional characterization of centromeric structural variants using long-read assemblies
Move Over SNPs: Structural Variants, Repeat Expansions, and More
Copy number/structural variationGenome-wide association studyStatistical geneticsLong-read sequencing
Emory Network of Computational Omics Research (ENCORE)encore-group.emory.edu
Dry lab~13 people
Develops statistical methods and ML/AI algorithms for high-throughput multi-omics and single-cell RNA-sequencing data. Works with scientists and clinicians on health and medicine.
58 papers since 2024
Single-cell genomics and regulatory networks for 388 human brains
Science, 2024
Single-cell multi-cohort dissection of the schizophrenia transcriptome
Science, 2024
A data-driven single-cell and spatial transcriptomic map of the human prefrontal cortex
Science, 2024
Source: OpenAlex author A5042399779
6 platforms and techniques
Analyzes
single-cell RNA-sequencing, bulk gene expression
Techniques
statistical methods, network-based methods, machine/deep learning, Empirical Bayes PCA
Source: lab pages
Currently hiring
“We are looking for highly self-motivated individuals at all levels, including undergraduate students, master’s students, and PhD students.”
Source: lab positions page
No funding stated
Poster
Thu Oct 22
4:15 pm
Building a pre-trained foundation model for genotype phenotype association using UK Biobank data
Artificial Intelligence and Machine Learning
Artificial intelligenceClinical geneticsDeep learningGenotype-phenotype correlations
Poster
Thu Oct 22
4:15 pm
Benchmarking Statistical Methods for Differential Composition Analysis in Population-Scale Single-Cell Data
Omics Technologies
Collaborators: Centre de recherches mathématiques
Single-cellTranscriptomeGenomicsComputational tools
Jin Labpengjinlab.org
Wet + dry lab~19 people
Studies short tandem repeats and epigenetic regulation using bioinformatics, Drosophila, mouse models and human brain organoids. Focuses on Fragile X and neurodevelopmental and neurodegenerative disorders.
39 papers since 2024
NKX2-1 drives neuroendocrine transdifferentiation of prostate cancer via epigenetic and 3D chromatin remodeling
Nature Genetics, 2025
Characterization and visualization of tandem repeats at genome scale
Nature Biotechnology, 2024
A data-driven single-cell and spatial transcriptomic map of the human prefrontal cortex
Science, 2024
Source: OpenAlex author A5039869995
9 platforms and techniques
Analyzes
m6A epitranscriptome profiling
Techniques
Drosophila eye screening, Behavior tests, Human brain organoids, Mouse models, MicroRNA studies, 5hmC-mediated epigenetic regulation, Bioinformatics data analysis, Multi-omics analysis
Source: lab pages
Currently hiring
“Available Positions: Postdoctoral fellows, Research scientists, Graduate students, Undergraduate students”
Source: lab positions page
No funding stated
Poster
Wed Oct 21
2:30 pm
★ Reviewers’ Choice
GLP-1 Receptor Activation Produces Divergent Neurological and Reproductive Outcomes in a Fragile X Premutation Mouse Model
Complex Traits and Polygenic Disorders
Brain/nervous systemCharacterization of disordersGene regulationMolecular therapeutics
Poster
Thu Oct 22
4:15 pm
★ Reviewers’ Choice
Genome-wide quantification of somatic repeat instability from long-read sequencing reveals region-specific mosaicism in fragile X premutation brains
Molecular Effects of Genetic Variation
Collaborators: Baylor College of Medicine
Triplet and other repeatsGenetic variation
Leslie Labtheleslielab.org
Dry lab~8 people
Combines deep phenotyping, genetic association methods and next-generation sequencing to study orofacial clefts. Uses genomic data to explain phenotypic heterogeneity and support genetic counseling.
8 papers since 2024
Zfp750 prevents oral adhesions and promotes temporary epithelial fusions
bioRxiv (Cold Spring Harbor Laboratory), 2026
Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy
The American Journal of Human Genetics, 2025
Distinguishing syndromic and nonsyndromic cleft palate through analysis of protein-altering de novo variants in 818 trios
The American Journal of Human Genetics, 2025
Source: OpenAlex author A5115935372
Funded by NIH
NIH, Gabriella Miller Kids First Pediatric Research Program · active
“We are part of the Gabriella Miller Kids First Pediatric Research Program, an NIH initiative”
Source: lab pages
5 platforms and techniques
Techniques
deep phenotyping, genetic association methods, next-generation sequencing, genotype-phenotype correlations, genetic modifiers
Source: lab pages
No openings posted
Talk
Thu Oct 22
1:45 pm
Characterization of de novo structural variants in 1,561 trios with orofacial clefts
Elucidating Structural Variation in Human Health and Disease
Collaborators: Massachusetts General Hospital, Broad Institute +8 more
Rare variantsGenetic variationMalformationCandidate gene
Poster
Thu Oct 22
4:15 pm
Analysis of de novo variants in 752 isolated cleft lip trios
Complex Traits and Polygenic Disorders
Collaborators: Children's Hospital of Philadelphia, University of Iowa
Genetic variationVariant interpretationComplex diseasesGenomics
Yang Labyanglab-emory.github.io/pages/lab.html
Dry lab~10 people
Analyzes WGS/WES, ChIPseq, RNAseq and single-cell/nucleus omics data. Develops TWAS/PWAS methods for Alzheimer’s dementia, Parkinson disease and motor functions.
55 papers since 2024
Epitranscriptomic regulation of cardiac fibrosis via YTHDF1-dependent PIEZO2 mRNA m6A modification
Cardiovascular Research, 2024
Childhood Mycoplasma pneumoniae : epidemiology and manifestation in Northeast and Inner Mongolia, China
Microbiology Spectrum, 2024
Automatic speech analysis for detecting cognitive decline of older adults
Frontiers in Public Health, 2024
Source: OpenAlex author A5100633813
Funded by NIH National Institute of General Medical Sciences
NIH National Institute of General Medical Sciences, R35GM138313 · active
“Supported by R35GM138313 NIH National Institute of General Medical Sciences”
Source: lab pages
13 platforms and techniques
Analyzes
WGS/WES, ChIPseq, RNAseq, Single-cell/nucleus omics sequencing, Spatial transcriptomics, snRNA-seq
Techniques
TWAS, PWAS, Bayesian genome-wide TWAS, Integrative multi-omics analysis, Machine learning, Deep learning, Tensor regression
Source: lab pages
Currently hiring
“Yang lab currently has an opening for Research Specialist.”
Source: lab positions page
Poster
Thu Oct 22
4:15 pm
Studying cis- and trans- regulatory mechanisms of Alzheimer’s disease dementia by Bayesian Genome-wide TWAS and PWAS
Statistical Genetics and Genetic Epidemiology
Collaborators: Rush University Medical Center, Columbia University Irving Medical Center
Alzheimer’s diseaseExpression quantitative trait lociMulti-omicsStatistical genetics
Poster
Fri Oct 23
2:30 pm
Tensor-TWAS: A Novel Multi-context Transcriptome-wide Association Framework via Penalized Tensor Regression
Statistical Genetics and Genetic Epidemiology
Collaborators: Rush University Medical Center, Columbia University Irving Medical Center
BioinformaticsBrain/nervous systemGenotype-phenotype correlationsSingle-cell
AI in Genomics Labjianhu-lab.org
Dry lab~10 people
Develops statistical and machine-learning methods for single-cell RNA sequencing, spatial transcriptomics, protein omics and digital pathology. Applies them to Alzheimer’s disease and cancer studies.
24 papers since 2024
STING agonist 8803 reprograms the immune microenvironment and increases survival in preclinical models of glioblastoma
Journal of Clinical Investigation, 2024
Fc-enhanced anti-CTLA-4, anti-PD-1, doxorubicin, and ultrasound-mediated blood–brain barrier opening: A novel combinatorial immunotherapy regimen for gliomas
Neuro-Oncology, 2024
Enhancement effect of kale fiber on physicochemical, rheological and digestive properties of goat yogurt
LWT, 2024
Source: OpenAlex author A5082080586
Funded by New Vision Research (NVR)
New Vision Research (NVR), The Peter Davies Travel Award · 2026
“Dr. Hu, has been selected as a recipient of the 2026 The Peter Davies Travel Award. Thanks to support from the New Vision Research (NVR)!”
Source: lab pages
9 platforms and techniques
Analyzes
single-cell RNA sequencing, spatial transcriptomics, protein omics, metabolomics, gigapixel whole-slide images (WSIs)
Techniques
machine learning, spatial multi-omics integration, graph convolutional networks, ligand-receptor pair discovery
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
Poster
Thu Oct 22
4:15 pm
★ Reviewers’ Choice
Multimodal analysis of transcriptional regulation in the Dorsolateral Prefrontal Cortex enhances Alzheimer's disease risk gene discovery
Statistical Genetics and Genetic Epidemiology
Collaborators: Rush University Medical Center, Columbia University Irving Medical Center
Alzheimer’s diseaseExpression quantitative trait lociGene regulationStatistical genetics
Center of Computational and Quantitative Geneticsmed.emory.edu/departments/human-genetics/research/computational-analytics/index.html
Dry lab~24 people
Develops statistical and computational tools for genetics, including single-cell genomics, spatial multi-omics and Nanopore long-read sequencing analysis. Applies them to disease genetics and precision medicine.
14 papers since 2024
From unsupervised clustering to atlas-guided annotation in cohort-scale spatial omics with HiCAT
bioRxiv (Cold Spring Harbor Laboratory), 2026
Short-Term Metformin Protects Against Glucocorticoid-Induced Toxicity in Healthy Subjects: A Randomized, Double-Blind, Placebo-Controlled Trial
Diabetes Care, 2025
Testing of Lead Freezing at the LEFREEZ Facility in Support of Westinghouse Lead Fast Reactor Development
Preprint or unlisted venue, 2024
Source: OpenAlex author A5108516494
15 platforms and techniques
Analyzes
single-cell genomics, spatial multi-omics, single-cell sequencing, spatial transcriptomics/proteomics, Nanopore long-read sequencing technologies, multiplex imaging, digital pathology, single-nucleus sequencing
Techniques
Bayesian statistical methods, machine learning, deep learning, genetic association studies, genetic epidemiology, longitudinal analysis, statistical data analysis
Source: lab pages
No funding stated · No openings posted
Poster
Wed Oct 21
2:30 pm
Integrating dorsolateral prefrontal cortex multi-omics and GWAS summary data reveals genetic etiology of Parkinson’s disease
Statistical Genetics and Genetic Epidemiology
Collaborators: Rush University, Columbia University Irving Medical Center
TranscriptomeProteomicsNeurodegenerationGenomics
Clinical & Research Program for Psychosis at Gradymed.aws.emory.edu/departments/psychiatry/programs/clinical_research_program/index.html
~22 people
Provides evidence-based clinical care and research opportunities for serious mental illness. Services specialize in clozapine and early psychosis.
Funded by Emory at Grady
Emory at Grady, Research Infrastructure Support Award · active
“received an Emory at Grady Research Infrastructure Support Award”
Source: lab pages
1 platform and technique
Techniques
mixed-method approaches
Source: lab pages
Currently hiring
“offers one full-time and one half-time post-doctoral fellow position”
Source: lab positions page
Poster
Fri Oct 23
2:30 pm
Juvenile Social Isolation Circuit Polygenic Score Is Associated with Psychotic-Like Experiences: Moderation by School Environment
Statistical Genetics and Genetic Epidemiology
Collaborators: Icahn School of Medicine at Mount Sinai, National Center of Neurology and Psychiatry
Statistical geneticsRNA-seqPublic healthPsychiatric genetics
Fragile X Syndrome Clinicmed.emory.edu/departments/human-genetics/patient-care/fragile-x.html
~7 people
Studies Fragile X with whole genome sequencing, metabolomic analyses and longitudinal registry data. Supports clinical and translational research on risk, severity and treatment.
Funded by U.S. Centers for Disease Control and Prevention, NIH +1 more
U.S. Centers for Disease Control and Prevention, Fragile X Clinical & Research Consortium · Beginning in 2008 and continuing to the present
“Beginning in 2008 and continuing to the present, the U.S. Centers for Disease Control and Prevention has supported the Fragile X Clinical & Research Consortium.”
NIH, FX Center groups · active
“We are now enrolling participants in both NIH-funded FX Center groups”
NIH, HERCULES Exposome Research Center · active
“Funded through the Emory NIH-funded HERCULES Exposome Research Center”
Source: lab pages
6 platforms and techniques
Analyzes
whole genome sequencing, metabolomic analyses
Techniques
whole genome sequencing, metabolomic analyses, health and well-being questionnaires, neurological exam
Source: lab pages
No openings posted
Moderator
Thu Oct 22
11:00 am
Poster
Thu Oct 22
4:15 pm
GLP-1 receptor agonist use is associated with stable or improved neuropsychiatric symptoms in female FMR1 premutation carriers
Genetic Therapies and Precision Medicine
Autoimmune disorderDepressionNeurodegenerationPharmacologic therapy
Session
Fri Oct 23
9:45 am
Human-Algorithm Collaboration Lab (HACLab)haclab.org/team
Dry lab~11 people
Develops explainable AI using EHR, imaging, genomics and multi-omics data. Applies it to oncology decision support, clinical trials and patient care.
84 papers since 2024
Generative AI in Medicine — Evaluating Progress and Challenges
New England Journal of Medicine, 2025
Evaluating generalizability of oncology trial results to real-world patients using machine learning-based trial emulations
Nature Medicine, 2025
Uses and limitations of artificial intelligence for oncology
Cancer, 2024
Source: OpenAlex author A5031769250
Funded by National Cancer Institute
National Cancer Institute · active
“In one project funded by the NCI, we developed methodologies to incorporate PROs into standard prognostic algorithms”
Source: lab pages
16 platforms and techniques
Analyzes
EHR, Medical imaging, Multi-omics, Genomics, Insurance claims, Biomarker data, Patient-reported outcomes, Wearable accelerometer
Techniques
Predictive modeling, Randomized clinical trials, Prospective cohort studies, Mixed-methods studies, Natural language processing, Large language models, Information extraction, Fairness evaluation
Source: lab pages
Currently hiring
“We welcome inquiries year-round from: Prospective PhD students interested in joining the lab”
Source: lab positions page
Poster
Fri Oct 23
2:30 pm
SBRI: a biologically weighted somatic burden index with a longitudinal signal across 23,103 tumors
Molecular Effects of Genetic Variation
Collaborators: Winship Cancer Institute
Risk assessmentCancerMutation detectionDevelopment
Su Groupchangsu.org/group
Dry lab~7 people
Develops statistical methods for single-cell multimodal, scRNA, scATAC-seq and transcriptomic data. Studies gene networks and disease mechanisms with Alzheimer’s, lung and sickle cell researchers.
80 papers since 2024
When short-chain fatty acids meet type 2 diabetes mellitus: Revealing mechanisms, envisioning therapies
Biochemical Pharmacology, 2025
An exposome atlas of serum reveals the risk of chronic diseases in the Chinese population
Nature Communications, 2024
AI hybrid survival assessment for advanced heart failure patients with renal dysfunction
Nature Communications, 2024
Source: OpenAlex author A5001040802
Funded by NIH, Emory University +1 more
Emory Goizueta ADRC, pilot award · 2026
“Chang received a new pilot award from Emory Goizueta ADRC, which proposes to study the impact of air pollution on aging brain using single-cell transcriptomics.”
NIH · active
“My research is supported by NIH funding and pilot grants at Emory University.”
Emory University, pilot grants · active
“My research is supported by NIH funding and pilot grants at Emory University.”
Source: lab pages
15 platforms and techniques
Analyzes
scRNA, scATAC-seq, single-cell multimodal data, single-cell multiome, spatial transcriptomics, CMap, single-cell transcriptomic and proteomic data
Techniques
gene network inference, co-expression QTL, polygenic risk score, sequence-to-function models, machine learning, TWAS, eQTL identification, human cortical organoids
Source: lab pages
No openings posted
Poster
Thu Oct 22
4:15 pm
TL-TWAS: Transfer learning for TWAS using large-scale transcriptomic resources in underpowered target contexts
Statistical Genetics and Genetic Epidemiology
Collaborators: Florida State University
Multi-omicsExpression quantitative trait lociGenome-wide association studyBioinformatics
1 more presenter — research group not yet identified

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