Abstract
Central to the precision medicine trend is the ability to test for genomic variation in a given patient and use the variation to offer diagnoses and precision treatment. In most cases, tests for variation involve clinical molecular genetic tests. Genetic tests for germline variation include tests for macro-scale molecular changes, such as cytogenetic differences, and micro-scale variation of differences at the nucleotide level. The recent shift to genome sequence analysis brings with it challenges for interpreting genetic variation, particularly rare differences, that all humans carry.
| Original language | English (US) |
|---|---|
| Title of host publication | Genomic and Precision Medicine |
| Subtitle of host publication | Foundations, Translation, and Implementation: Third Edition |
| Publisher | Elsevier Inc |
| Pages | 263-282 |
| Number of pages | 20 |
| ISBN (Print) | 9780128006818 |
| DOIs | |
| State | Published - Jan 1 2017 |
Keywords
- Clinical test
- Genetic test
- Genome sequencing
- Molecular genetic test
ASJC Scopus subject areas
- General Biochemistry, Genetics and Molecular Biology