ASHG 2026 · Tier 2–3 Academic
Nagoya University at ASHG 2026
Nagoya, Japan
Nagoya University at ASHG 2026 in Montréal: 5 presentations (5 posters); 4 research groups.
5
presentations on the program
4
research groups identified
| Organization | ASHG 2026 Attendance |
|---|---|
Nagoya University Nagoya, Japan | 3 Faculty · 1 PhD Student |
Developmental Genetics Division (発生遺伝分野)riem.nagoya-u.ac.jp/4/genetics/recruit.html Studies genome-instability diseases using DNA-repair activity screening and next-generation sequencing. Supports genetic diagnosis of rare inherited disorders through IRUD.
| Poster Fri Oct 23 2:30 pm Temporal dysmorphology in RNA-related neurodevelopmental syndromes: Shared features of ZTTK syndrome, NKAP disorder, and ReNU syndrome Clinical geneticsClinical historyRNASkeletal system |
Human Geneticsmed.nagoya-u.ac.jp/medical_E/laboratory/basic-med/higher-nervous/teratology-genetics Uses in-house next-generation DNA sequencing, high-content screening and DNA-repair activity assays on patient-derived cells. Supports diagnosis and drug development for genome instability diseases.
| Poster Fri Oct 23 2:30 pm Structural variants disrupting distal regulatory landscapes of forkhead transcription factors: from intrachromosomal deletion to interchromosomal displacement Chromosomal structure/functionCopy number/structural variationGene regulationLong-read sequencing |
Public Health Informatics Unitpubhealthinfo.com/index-e.html Analyzes SNP, DNA methylation, miRNA, protein, health-checkup and electronic medical-record data. Develops disease-risk, diagnostic, prognosis and prevention models for Japanese cohorts.
| Poster Thu Oct 22 4:15 pm ROWVA enables structure-based pathogenicity prediction of missense variants in multimeric proteins Artificial intelligenceProtein structure |
遺伝グループnagoya-u-ped.jp/laboratory/genetic.php Performs whole-genome analysis and genetic testing on patient specimens. Targets difficult-to-diagnose genetic disease and new diagnostic and treatment methods.
| Poster Thu Oct 22 4:15 pm Mosaic genome-wide paternal uniparental isodisomy presenting with severe atypical features: potential unmasking of autosomal recessive disease MosaicismEpigeneticsExome/genome sequencingGenotype-phenotype correlations |
| 1 more presenter — research group not yet identified | |
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