Below is a list of a list of submitted GREGoR Consortium conference abstracts.
| Title | Lead Author | Name of Professional Meeting | Meeting Date(s) | Submitted Sort ascending | Program #/ID |
|---|---|---|---|---|---|
| Multi‑omic analysis enhances diagnostic yield in a cohort of rare disease participants: Results from the GREGoR Stanford Site | Mendez, Hector Rodrigo | ASHG - American Society of Human Genetics Annual Meeting | October 10-14, 2025 | 4102F | |
| Identification of de novo variants from parent-proband duos via long-read sequencing | Boukas, Leandros | ASHG - American Society of Human Genetics Annual Meeting | October 14-18, 2025 | Room 210AB, Level 2 | |
| Long-read Genome Sequencing Resolves Genetic Cases Missed by Short-read Sequencing | Pitsava, Georgia | ASHG - American Society of Human Genetics Annual Meeting | October 14-18, 2025 | 4069F | |
| Haploinsufficiency of RNPS1, a Component of the Exon Junction Complex, Causes a Developmental Disorder with Skeletal Anomalies | Pande, Shruti | Late Breaking abstract at ASHG - American Society of Human Genetics Annual Meeting | Oct 8-11, 2025 | Late Breaking Poster Thursday Session | |
| Dysfunction of the cationic amino acid transporter SLC7A1 causes autosomal recessive spastic cerebral palsy & hereditary spastic paraplegia | Calame, Daniel | ASHG | Oct 8-11, 2025 | 7003T | |
| From Data to Diagnosis: Advancing Rare Disease Research through Collaborative Genomics | Grochowski, Christopher | ASHG - American Society of Human Genetics Annual Meeting | October 14-18 | Session 14 | |
| Reframing Septo-Optic Dysplasia as a Pathway-Defined Disorder: Insights from a Clinically and Genetically Diverse Cohort | Beheshti, Shaghayegh | ASHG - American Society of Human Genetics Annual Meeting | Oct 14-14, 2025 | 7042T | |
| A plug-and-play, user-friendly platform to annotate and analyze variants from omics sequencing | Rivera-Munoz, Andres/Dawood Moez | ASHG - American Society of Human Genetics Annual Meeting | Oct 13-18, 2025 | Board 2043T | |
| Annotation of Noncoding Regulatory Elements Enables Diagnosis of Rare Disease | Romo, Lindsay | ASHG - American Society of Human Genetics Annual Meeting | October 14-17, 2025 | Omics Technologies Poster Wednesday Session | |
| ESMO-MD: Evolutionary Scale Model Optimized on Meta-Domains learns human protein domain embeddings for variant effect prediction | Laurens van de Wiel | ASHG - American Society of Human Genetics Annual Meeting | October 14-18, 2025 | 4033F | |
| Exons encoding protein domains are associated with increased splice site recognition | Laurens van de Wiel | AGBT-PH - Advances in Genome Biology and Technology - Precision Health Meeting | September 8-10, 2025 | 304 | |
| MetaDome 2.0: Aggregation of genetic variants across homologous human protein domains improves variant impact investigation | Laurens van de Wiel | ASHG - American Society of Human Genetics Annual Meeting | October 14-18, 2025 | 4109T | |
| The GREGoR multiomics report: web application that integrates disparate omics results into a unified interface. | Petrowski, Paul | ASHG - American Society of Human Genetics Annual Meeting | October 14-18 2025 | 8023T | |
| Haploinsufficiency of RNPS1, a Component of the Exon Junction Complex, Causes a Developmental Disorder with Skeletal Anomalies | PANDE, SHRUTI | Late Breaking abstract at ASHG - American Society of Human Genetics Annual Meeting | October 14-18, 2025 | Late Breaking Poster Thursday Session (Board 2004T) | |
| Detecting Aberrant RNA Splicing Events for Rare Disease Diagnosis | Ma, Jialan | ASHG - American Society of Human Genetics Annual Meeting | October 14-18, 2025 | N/A |