Quantitative CNV testing in molecular diagnostics [electronic resource] / Dimitri J. Stavropoulos.

By: Stavropoulos, Dimitri J [spk]Material type: FilmFilmSeries: Henry Stewart talksBiomedical & life sciences collection. Copy number variation: Publisher: London : Henry Stewart Talks, 2021Description: 1 online resource (1 streaming video file (43 min.) : color, sound)Subject(s): 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, MolecularOnline resources: Click here to access online | Series
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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Animated audio-visual presentation with synchronized narration.

Title from title frames.

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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Mode of access: World Wide Web.

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