1. Molecular Genetic Testing and the Future of Clinical Genomics
- Author
-
S.H. Katsanis and N. Katsanis
- Subjects
0301 basic medicine ,Molecular genetic testing ,Biology ,Precision medicine ,Nucleotide level ,DNA sequencing ,03 medical and health sciences ,030104 developmental biology ,0302 clinical medicine ,Variation (linguistics) ,Evolutionary biology ,Genetic variation ,Genome sequence analysis ,Medical diagnosis ,030217 neurology & neurosurgery - 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.
- Published
- 2017
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