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The future of CNVs : sequence based resolution and links to human disease, part 1 of 2 / Evan Eichler.
- Format:
- Video
- Author/Creator:
- Eichler, Evan (University of Washington, USA), Speaker.
- Series:
- Henry Stewart talks. Biomedical & life sciences collection. Biomarkers.
- Henry Stewart talks. Biomedical & life sciences collection. Copy number variation.
- Biomarkers : the path forward to highly sensitive and specific molecular diagnostics, 2056-452X
- Copy number variation : expanding the repertoire of genetic alterations in studies of natural variation and disease, 2056-452X
- Language:
- English
- Subjects (All):
- 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, DNA.
- Medical Subjects:
- 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, DNA.
- Genre:
- Video recordings.
- Physical Description:
- 1 online resource (1 streaming video file (38 min.)) : color, sound.
- polychrome
- Other Title:
- Future of CNVs : sequence based resolution and links to human disease. Part 1
- Sequence based resolution and links to human disease 1
- Place of Publication:
- London : Henry Stewart Talks, 2017.
- System Details:
- Mode of access: World Wide Web.
- video file
- Contents:
- 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.
- Notes:
- Animated audio-visual presentation with synchronized narration.
- Revised version of a talk first published in 2009.
- Title from title frames.
- Publisher Number:
- 2120 Henry Stewart Talks
- Access Restriction:
- Restricted for use by site license.
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