Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH. [electronic resource]
Producer: 20190911Description: 545-556 p. digitalISSN:- 1399-0004
- Adolescent
- Adult
- Child
- Child, Preschool
- DNA Copy Number Variations
- Female
- Genetic Predisposition to Disease
- Genetic Testing -- methods
- Genetic Variation
- Genome-Wide Association Study -- methods
- High-Throughput Nucleotide Sequencing -- methods
- Humans
- INDEL Mutation
- Infant
- Loss of Heterozygosity
- Male
- Polymorphism, Single Nucleotide
- Sequence Analysis, DNA
- Young Adult
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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