CANVAR: A Tool for Clinical Annotation of Variants Using ClinVar Databases
ABSTRACT Background Genomic medicine has transformed clinical genetics by utilizing high‐throughput sequencing technologies to analyze genetic variants associated with diseases. Accurate variant classification is crucial for diagnosis and treatment decisions, and various tools and software such as t...
Saved in:
| Main Authors: | Lau K. Vestergaard, Joanna Lopacinska‐Jørgensen, Estrid V. Høgdall |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2024-10-01
|
| Series: | Molecular Genetics & Genomic Medicine |
| Online Access: | https://doi.org/10.1002/mgg3.70020 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Toward streamline variant classification: discrepancies in variant nomenclature and syntax for ClinVar pathogenic variants across annotation tools
by: Yu-An Chen, et al.
Published: (2025-06-01) -
AlphaMissense Predictions and ClinVar Annotations: A Deep Learning Approach to Uveal Melanoma
by: David J. Taylor Gonzalez, MD, et al.
Published: (2025-05-01) -
P257: ClinVar-based reanalysis in the UDN cohort
by: Alistair Ward, et al.
Published: (2025-01-01) -
P655: Improved representation of functional data in ClinVar
by: Melissa Landrum, et al.
Published: (2025-01-01) -
P220: The ClinGen Variant Curation Interface (VCI) to support direct submission and tracking of submissions to ClinVar
by: Christine Preston, et al.
Published: (2025-01-01)