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
| Organization | ASHG 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 Investigates undiagnosed diseases using clinical exome sequencing and genotype-phenotype correlations. Translates findings into new diagnoses and therapeutic strategies.
| Poster Wed Oct 21 2:30 pm Long-read genome sequencing in exome-negative Chilean families: early diagnoses from an international collaboration Exome/genome sequencingBioinformaticsSequencing technologyX-linked disease Symposium Fri Oct 23 8:50 am Poster Fri Oct 23 2:30 pm Trio-aware long-read genome sequencing resolves challenging rare disease diagnoses Long-read sequencingGenomicsMendelian disorderCopy number/structural variation |
Division of Personalized Genomic Medicinepathology.columbia.edu/diagnostic-specialties/division-personalized-genomic-medicine Runs whole-exome sequencing, targeted cancer panels, PCR and SNP microarray testing. Supports diagnosis and treatment selection for genetic conditions, cancer and prenatal anomalies.
| 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 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.AutismCandidate geneCharacterization of disordersExome/genome sequencing |
GiusTo Labneurology.columbia.edu/research/research-labs/tosto-lab 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.
| 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 intelligencePolygenic risk scoreAlzheimer’s diseaseMachine learning |
GUARDIAN Studyguardian-study.org/who-we-are 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.
| 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 Newborn screeningCharacterization of disordersEthical, legal, and social implicationsGenetic counseling |
Kiryluk Labcolumbiamedicine.org/divisions/kiryluk/members.php Analyzes human GWAS, exome, genome, transcriptome and multi-omics data. Studies kidney disease, especially IgA nephropathy, for diagnosis and personalized treatment.
| Poster Fri Oct 23 2:30 pm Improving the computation efficiency of whole-genome quantile regression via Stochastic Gradient Descent 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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