Lupski, James R. 1957-
Genomic disorders mechanisms for copy number variation (CNV) and clinical implementation of high-resolution genome analysis / [electronic resource] : James R. Lupski. - London : Henry Stewart Talks, 2009. - 1 online resource (1 streaming video file (64 min.) : color, sound). - 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. Copy number variation. .
Animated audio-visual presentation with synchonized narration. Title from title frames.
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.
Access restricted to subscribers.
Mode of access: World Wide Web.
2124 Henry Stewart Talks
Gene Dosage.
Genetic Variation.
Genome, Human.
Genomic disorders mechanisms for copy number variation (CNV) and clinical implementation of high-resolution genome analysis / [electronic resource] : James R. Lupski. - London : Henry Stewart Talks, 2009. - 1 online resource (1 streaming video file (64 min.) : color, sound). - 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. Copy number variation. .
Animated audio-visual presentation with synchonized narration. Title from title frames.
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.
Access restricted to subscribers.
Mode of access: World Wide Web.
2124 Henry Stewart Talks
Gene Dosage.
Genetic Variation.
Genome, Human.