Low-Pass Genome Sequencing: Validation and Diagnostic Utility from 409 Clinical Cases of Low-Pass Genome Sequencing for the Detection of Copy Number Variants to Replace Constitutional Microarray. [electronic resource]
Producer: 20210730Description: 823-840 p. digitalISSN:- 1943-7811
- Adolescent
- Base Sequence
- Child
- Chromosome Mapping -- methods
- DNA Copy Number Variations
- Data Accuracy
- Gene Deletion
- Genetic Testing -- methods
- Genome, Human
- Genomics -- methods
- High-Throughput Nucleotide Sequencing -- methods
- Humans
- Infant
- Male
- Microarray Analysis -- methods
- Mutagenesis, Insertional
- Polymorphism, Single Nucleotide
- Sensitivity and Specificity
- Whole Genome Sequencing -- methods
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Publication Type: Case Reports; Comparative Study; Journal Article; Validation Study
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