The future of CNVs [electronic resource] : sequence based resolution and links to human disease, part 1 of 2 / Evan Eichler.
Material type:
FilmSeries: Henry Stewart talksBiomedical & life sciences collection. Biomarkers: ; Henry Stewart talksBiomedical & life sciences collection. Copy number variation: Publisher: London : Henry Stewart Talks, 2017Description: 1 online resource (1 streaming video file (38 min.) : color, sound)Other title: Future of CNVs : sequence based resolution and links to human disease. Part 1 | Sequence based resolution and links to human disease 1Subject(s): Biochemical markers | Genetic disorders | Medical genetics | Nucleotide sequence | Variation (Biology) | Biomarkers | Comparative Genomic Hybridization | Cytidine Deaminase -- genetics | DNA Copy Number Variations | Gene Dosage | Genetic Variation | Genetics, Medical | Genetics, Population | Genome, Human | Genome-Wide Association Study | Genomic Structural Variation | Genomics -- trends | Polymorphism, Genetic | Segmental Duplications, Genomic -- genetics | Sequence Analysis, DNAOnline resources: Click here to access online | Series (Copy number variation) | Series (Biomarkers) Animated audio-visual presentation with synchronized narration.
Title from title frames.
Updated version of a talk first published in 2009.
Contents: Human genetic variation -- "Normal" structural variation -- Copy number polymorphism and disease -- Duplicated sequences: copy number variant (CNV) hotspots -- Structural variation and enriched gene functions -- Array comparative genomic hybridization -- Insufficiency of CNV detection -- Sequence-based resolution of structural variation -- Genome-wide detection of structural variation -- Validated sites of structural variation -- Frequency and length distribution -- APOBEC3B -- Breakpoint heterogeneity -- Detection of novel insertion sequences.
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Mode of access: World Wide Web.