Indels, CNVs and the spectrum of human genome variation [electronic resource] / Samuel Levy.
Material type:
FilmSeries: Henry Stewart talksBiomedical & life sciences collection. Copy number variation: Publisher: London : Henry Stewart Talks, 2009Description: 1 online resource (1 streaming video file (40 min.) : color, sound)Subject(s): Gene Dosage | Genetic Variation | Genome, HumanOnline resources: Click here to access online | Series Animated audio-visual presentation with synchonized narration.
Title from title frames.
Contents: Long term goals for human genotype-phenotype studies -- De novo assembly of an individual genome sequence -- How does HuRef compare to other human assemblies? -- SNP in HuRef assembly -- How do variants impact coding sequence? -- Nucleotide diversity -- Homozygous insertions and deletions: identification and validation -- CNVs and read depth coverage -- Construction of haplotypes and diploid representation -- Additional sequencing to provide complete genome assembly through detection of indels/CNV.
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Mode of access: World Wide Web.