Last Updated: 09/26/2026
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Found 283 publications
Capturing Perceived Utility from Qualitative Studies of Genomic Sequencing: Translating a Conceptual Model into a Working Codebook.
Journal: AJOB empirical bioethics
Published: July 22, 2026
Benchmarking long-read variant sensitivity across ONT and PacBio platforms using known clinically reported variants in a cohort of critically ill newborns.
Journal: medRxiv : the preprint server for health sciences
Published: July 17, 2026
Complex structural variation, phylogeny, and disease associations of the mucin pangenome.
Journal: medRxiv : the preprint server for health sciences
Published: July 10, 2026
Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and Dataset.
Journal: bioRxiv : the preprint server for biology
Published: June 04, 2026
Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and Dataset.
Journal: bioRxiv : the preprint server for biology
Published: June 04, 2026
Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions.
Journal: medRxiv : the preprint server for health sciences
Published: November 26, 2025
Sensitivity of HiFi long-read genome sequencing for difficult-to-detect pathogenic variants when applied to real-world clinical laboratory samples.
Journal: American journal of human genetics
Published: November 14, 2025
Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions.
Journal: American journal of human genetics
Published: November 07, 2025
Implementation of First-Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care Units.
Journal: American journal of medical genetics. Part A
Published: August 24, 2025
Cell modeling and rescue of a novel noncoding genetic cause of glycogen storage disease IX.
Journal: Genetics in medicine open
Published: July 23, 2025
Cell Modeling and Rescue of a Novel Non-coding Genetic Cause of Glycogen Storage Disease IX.
Journal: bioRxiv : the preprint server for biology
Published: June 04, 2025
Using bioinformatic tools to identify high-risk variants of uncertain significance in aortopathy genes that increase aortic dissection risk.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 07, 2025
Last Updated: 09/26/2026