Molecular Genetic Testing and the Future of Clinical Genomics

S. H. Katsanis; Elias Nicholas Katsanis

doi:10.1016/B978-0-12-800681-8.00018-9

Molecular Genetic Testing and the Future of Clinical Genomics

S. H. Katsanis^*, Elias Nicholas Katsanis

^*Corresponding author for this work

Pediatrics

Research output: Chapter in Book/Report/Conference proceeding › Chapter

3 Scopus citations

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	https://doi.org/10.1016/B978-0-12-800681-8.00018-9
State	Published - Jan 1 2017

Keywords

Clinical test
Genetic test
Genome sequencing
Molecular genetic test

ASJC Scopus subject areas

Biochemistry, Genetics and Molecular Biology(all)

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10.1016/B978-0-12-800681-8.00018-9

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Molecular Genetic Testing and the Future of Clinical Genomics

Abstract

Keywords

ASJC Scopus subject areas

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