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Streaming video
Author Eichler, Evan (University of Washington, USA), speaker

Title The future of CNVs : sequence based resolution and links to human disease, part 1 of 2 / Evan Eichler
Published London : Henry Stewart Talks, 2017
Online access available from:
HSTalks Biomedical & Life Sciences Collection    View Resource Record  


Description 1 online resource (1 streaming video file (38 min.) : color, sound)
Series 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
Henry Stewart talks. Biomedical & life sciences collection. Biomarkers
Henry Stewart talks. Biomedical & life sciences collection. Copy number variation
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
Mode of access: World Wide Web
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Subject Biochemical markers.
Genetic disorders.
Medical genetics.
Nucleotide sequence.
Variation (Biology)
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/Form Video recordings.
Form Streaming video
Other Titles Future of CNVs : sequence based resolution and links to human disease. Part 1
Sequence based resolution and links to human disease 1