Additional file 11 of Toward streamline variant classification: discrepancies in variant nomenclature and syntax for ClinVar pathogenic variants across annotation tools

Additional file 11 of Toward streamline variant classification: discrepancies in variant nomenclature and syntax for ClinVar pathogenic variants across annotation tools

Additional file 11

Saved in:
Bibliographic Details
Main Author: Yu-An Chen (176581) (author)
Other Authors: Tzu-Hang Yuan (21579741) (author), Jia-Hsin Huang (6001340) (author), Yu-Bin Wang (3277728) (author), Tzu-Mao Hung (21579744) (author), Chien-Yu Chen (19044) (author), Pei-Lung Chen (231490) (author), Jacob Shujui Hsu (13761994) (author)
Published: 2025
Subjects:
Medicine
Genetics
Biotechnology
Sociology
Cancer
Mental Health
Infectious Diseases
Virology
Space Science
Biological Sciences not elsewhere classified
Mathematical Sciences not elsewhere classified
Information Systems not elsewhere classified
Variant annotation
HGVS nomenclature
ClinVar
Variant interpretation
ACMG guideline
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items