Germline, hematopoietic, mosaic, and somatic variation: interplay between inherited and acquired genetic alterations in disease assessment
Advances in genetic analysis have revealed new complexities in the interpretation of genetic variants. Correct assessment of a genetic variant relies on the clinical context and knowledge of the underlying biology. We outline four scenarios encountered in genetic testing where careful consideration...
| Main Authors: | , |
|---|---|
| Format: | Online |
| Language: | English |
| Published: |
BioMed Central
2016
|
| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5050638/ |
| Summary: | Advances in genetic analysis have revealed new complexities in the interpretation of genetic variants. Correct assessment of a genetic variant relies on the clinical context and knowledge of the underlying biology. We outline four scenarios encountered in genetic testing where careful consideration of the origin of genetic variation is required for variant interpretation. |
|---|