Standards and Guidelines for Genetic Variant Interpretation (Q168961)
From geokb
This cluster of papers focuses on the standards, guidelines, and tools for interpreting genetic variants, particularly in the context of clinical genomics and Mendelian disorders
- Genetic Variants
- Sequence Interpretation
- Clinical Genomics
- Pathogenicity Prediction
- Exome Sequencing
- Mendelian Disorders
- Functional Annotations
- Variant Databases
- Phenotype Analysis
- ACMG Guidelines
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | Standards and Guidelines for Genetic Variant Interpretation |
This cluster of papers focuses on the standards, guidelines, and tools for interpreting genetic variants, particularly in the context of clinical genomics and Mendelian disorders |
|
