ASHG 2026 · Hospital & health system

Columbia University Irving Medical Center at ASHG 2026

New York, New York

Columbia University Irving Medical Center at ASHG 2026 in Montréal: 9 presentations (6 posters, 1 featured symposium, 1 lightning talk); 6 research groups.

9
presentations on the program
6
research groups identified
1
sessions invited to or moderated
1
Reviewers’ Choice abstracts

Explore everyone at ASHG 2026 →

OrganizationASHG 2026 Attendance
Columbia University Irving Medical Center
New York, New York
3 Clinicians · 2 Postdocs · 2 PIs
Posey Labpediatrics.columbia.edu/research-labs/posey-lab
Dry lab~4 people
Investigates undiagnosed diseases using clinical exome sequencing and genotype-phenotype correlations. Translates findings into new diagnoses and therapeutic strategies.
86 papers since 2024
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans
The Journal of Experimental Medicine, 2024
Human embryonic genetic mosaicism and its effects on development and disease
Nature Reviews Genetics, 2024
Using multiplexed functional data to reduce variant classification inequities in underrepresented populations
Genome Medicine, 2024
Source: OpenAlex author A5002411386
6 platforms and techniques
Analyzes
clinical exome sequencing, integrated structural and single-nucleotide variant platform
Techniques
genotype-phenotype correlations, automated deep phenotyping, retrieval-augmented generation, Drosophila models
Source: lab pages
No funding stated · No openings posted
Poster
Wed Oct 21
2:30 pm
Long-read genome sequencing in exome-negative Chilean families: early diagnoses from an international collaboration
Omics Technologies
Collaborators: Baylor College of Medicine, Neurological Research Institute +1 more
Exome/genome sequencingBioinformaticsSequencing technologyX-linked disease
Symposium
Fri Oct 23
8:50 am
Precision automated phenotyping for genomic discovery and clinical translation
AI Across the Diagnostic Odyssey: From Variant Interpretation to Computable Phenotypes
Poster
Fri Oct 23
2:30 pm
Trio-aware long-read genome sequencing resolves challenging rare disease diagnoses
Omics Technologies
Collaborators: Baylor College of Medicine, Texas Children's Hospital
Long-read sequencingGenomicsMendelian disorderCopy number/structural variation
Division of Personalized Genomic Medicinepathology.columbia.edu/diagnostic-specialties/division-personalized-genomic-medicine
Wet lab~12 people
Runs whole-exome sequencing, targeted cancer panels, PCR and SNP microarray testing. Supports diagnosis and treatment selection for genetic conditions, cancer and prenatal anomalies.
28 papers since 2024
Genetic and Phenotypic Intra-Clade Variation in Candida auris Isolated from Critically Ill Patients in a New York City Tertiary Care Center
Clinical Chemistry, 2025
Ordering Practices and Utilization of a Next-Generation Sequencing Panel for Myeloproliferative Neoplasms
The Journal of Applied Laboratory Medicine, 2025
Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease
Annals of Neurology, 2024
Source: OpenAlex author A5036202264
13 platforms and techniques
Runs
Cancer Whole Exome Sequencing with Transcriptome, Columbia Solid Tumor Panel, Columbia Combined Cancer Panel, Columbia Targeted Fusion Panel, MGMT Assay, Microsatellite Instability by PCR, SNP Oligonucleotide Microarray Analysis, Sanger Sequencing of Individual Variants
Techniques
Next-generation sequencing, PCR, SNP oligonucleotide microarray analysis, Sanger sequencing, Whole-exome sequencing
Source: lab pages
No funding stated · No openings posted
Talk
Wed Oct 21
2:27 pm
De novo CNOT7 missense variants resulting in loss of deadenylation function for mRNA poly(A) tail shortening, cause a neurodevelopmental disorder
Genetic Variation: From Catalogs to Consequences
Collaborators: Houston Methodist, University Medical Center Utrecht +3 more
AutismCandidate geneCharacterization of disordersExome/genome sequencing
Poster
Wed Oct 21
2:30 pm
★ Reviewers’ Choice
De novo CNOT7 missense variants resulting in loss of deadenylation function for mRNA poly(A) tail shortening, cause a neurodevelopmental disorder.
Molecular Effects of Genetic Variation
Collaborators: Houston Methodist, University Medical Center Utrecht +3 more
AutismCandidate geneCharacterization of disordersExome/genome sequencing
GiusTo Labneurology.columbia.edu/research/research-labs/tosto-lab
Dry lab~13 people
Studies Alzheimer’s disease and dementia using genetic epidemiology in admixed populations with clinical, biomarker and OMICS data. Recruits participants across North, Central and South America.
66 papers since 2024
Plasma phospho-tau217 as a predictive biomarker for Alzheimer’s disease in a large south American cohort
Alzheimer s Research & Therapy, 2025
Multi-ancestry genome-wide meta-analysis of 56,241 individuals identifies known and novel cross-population and ancestry-specific associations as novel risk loci for Alzheimer’s disease
Genome biology, 2025
ABCA7-dependent induction of neuropeptide Y is required for synaptic resilience in Alzheimer’s disease through BDNF/NGFR signaling
Cell Genomics, 2024
Source: OpenAlex author A5004919781
Funded by NIH
NIH · active
“he leads several NIH-funded projects recruiting large cohorts across North, Central, and South America.”
Source: lab pages
3 platforms and techniques
Analyzes
RNA sequencing
Techniques
Admixture mapping, Genome-wide association studies
Source: lab pages
No openings posted
Poster
Fri Oct 23
2:30 pm
Transformer-Based Multi-Trait Polygenic Risk Scores Enable GWAS-Independent Alzheimer’s Disease Classification Across Hispanic/Latino Cohorts
Artificial Intelligence and Machine Learning
Artificial intelligencePolygenic risk scoreAlzheimer’s diseaseMachine learning
GUARDIAN Studyguardian-study.org/who-we-are
~12 people
Screens newborns using genomic sequencing and dried blood spots. Columbia, NewYork-Presbyterian, New York State and GeneDx collaborate on early diagnosis of rare genetic conditions.
220 papers since 2024
Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations
Nature Medicine, 2024
Genome Sequencing for Diagnosing Rare Diseases
New England Journal of Medicine, 2024
Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes
Nature, 2024
Source: OpenAlex author A5018722278
4 platforms and techniques
Analyzes
Genomic sequencing
Techniques
Dried blood spot testing, Orthogonal testing, Newborn screening
Source: lab pages
No funding stated · No openings posted
Poster
Wed Oct 21
2:30 pm
Outcomes and impact of the GUARDIAN (Genomic Uniform-screening Against Rare Disease in All Newborns) genomic newborn screening study
Health Services Research and Implementation Science
Collaborators: New York State Department of Health, Weill Cornell Medical Center +2 more
Newborn screeningCharacterization of disordersEthical, legal, and social implicationsGenetic counseling
Kiryluk Labcolumbiamedicine.org/divisions/kiryluk/members.php
Wet + dry lab~15 people
Analyzes human GWAS, exome, genome, transcriptome and multi-omics data. Studies kidney disease, especially IgA nephropathy, for diagnosis and personalized treatment.
69 papers since 2024
Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations
Nature Medicine, 2024
Cell subtype-specific effects of genetic variation in the Alzheimer’s disease brain
Nature Genetics, 2024
Pre-transplant anti-nephrin antibodies are specific predictors of recurrent diffuse podocytopathy in the kidney allograft
Kidney International, 2024
Source: OpenAlex author A5050736159
Funded by National Institutes of Health (NIH), National Human Genome Research Institute (NHGRI) +1 more
National Institutes of Health (NIH), Multi-Omics for Health and Disease Consortium (MOHD) · active
“The Multi-Omics for Health and Disease Consortium (MOHD) is a research initiative established by the National Institutes of Health (NIH)”
National Human Genome Research Institute (NHGRI), eMERGE Network · active
“eMERGE is a national network organized and funded by the National Human Genome Research Institute (NHGRI)”
Midwest Pediatric Nephrology Consortium (MWPNC), GIGA-kids Study · active
“The study is a multicenter collaborative study based at Columbia University and sponsored by the Midwest Pediatric Nephrology Consortium (MWPNC).”
Source: lab pages
16 platforms and techniques
Analyzes
GWAS, CNV, Rare variant association, Exome sequencing, Genome sequencing, Transcriptome sequencing, RNA sequencing, Single-cell sequencing
Techniques
Linkage studies, Fine-mapping, Network-based approaches, ARACNe, Genotype-phenotype correlation, Prospective biomarker studies, Gene editing, In vitro and in vivo studies
Source: lab pages
Currently hiring
“We seek motivated, independent but team-oriented scientists with experience in the statistical analysis of human GWAS and Next Generation Sequencing data.”
Source: lab positions page
Poster
Fri Oct 23
2:30 pm
Improving the computation efficiency of whole-genome quantile regression via Stochastic Gradient Descent
Statistical Genetics and Genetic Epidemiology
Collaborators: University of Hong Kong
Computational toolsGenome-wide association studyQuantitative traitStatistical genetics
Division of Clinical Genetics
Research group.
Moderator
Thu Oct 22
11:00 am
1 more presenter — research group not yet identified

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