Quantitative CNV testing in molecular diagnostics

Quantitative CNV testing in molecular diagnostics

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Bibliographic Details
Other Authors: Stavropoulos, Dimitri J. (Speaker)
Format: Electronic Video
Language:English
Published: London : Henry Stewart Talks, 2021.
Series:Henry Stewart talks. Biomedical & life sciences collection. Copy number variation.
Subjects:
DNA > Analysis.
Genetic disorders > Molecular diagnosis.
Genetics > Technique.
Molecular diagnosis.
Molecular genetics.
DNA Copy Number Variations.
Genetic Diseases, Inborn > diagnosis.
Genetics, Medical.
Genomics > methods.
Molecular Diagnostic Techniques.
Pathology, Molecular.
Online Access:https://hstalks.com/bs/4687/
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Table of Contents:
  • Contents: Copy number variants (CNV)
  • Brief history of hereditary genomic rearrangements and disease
  • Methods of CNV detection
  • Exon targeted dosage analysis
  • Multiplex ligation probe amplification (MLPA)
  • Microarray
  • Criteria for the determination of CNV detection
  • Clinical interpretation and reporting of CNVs.

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