Genomic disorders [electronic resource] : mechanisms for copy number variation (CNV) and clinical implementation of high-resolution genome analysis / James R. Lupski.
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 (64 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.
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Contents: Rearrangements of the human genome as a significant source for genetic variation -- Genomic disorders -- Inherited and sporadic traits -- Rearrangements associated with genomic disorders can be recurrent, with breakpoint clusters resulting in a common sized deletion/duplication, or nonrecurrent and of different sizes -- Nonallelic homologous recombination (NAHR) -- Nonhomologous end-joining (NHEJ) -- Low-copy repeats (LCRs) -- Fork Stalling and Template Switching (FoSTeS) -- Rearrangements as an evolutionary function -- Gene dosage, position effects, unmasking of coding region mutations (cSNPs) and other functional SNPs -- De novo genomic rearrangements have been shown to cause both chromosomal and Mendelian disease, as well as sporadic traits -- Understanding of the extent to which genomic rearrangements, gene CNV, and/or gene dosage alterations are responsible for common and complex traits remains rudimentary.
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Mode of access: World Wide Web.