The Resource Genomic disorders : mechanisms for copy number variation (CNV) and clinical implementation of high-resolution genome analysis, James R. Lupski, (electronic resource)

Genomic disorders : mechanisms for copy number variation (CNV) and clinical implementation of high-resolution genome analysis, James R. Lupski, (electronic resource)

Label
Genomic disorders : mechanisms for copy number variation (CNV) and clinical implementation of high-resolution genome analysis
Title
Genomic disorders
Title remainder
mechanisms for copy number variation (CNV) and clinical implementation of high-resolution genome analysis
Statement of responsibility
James R. Lupski
Creator
Speaker
Subject
Language
eng
Member of
Cataloging source
UkLU-K
Characteristic
representational
Series statement
Copy number variation : expanding the repertoire of genetic alterations in studies of natural variation and disease,
Label
Genomic disorders : mechanisms for copy number variation (CNV) and clinical implementation of high-resolution genome analysis, James R. Lupski, (electronic resource)
Publication
Note
  • Animated audio-visual presentation with synchonized narration
  • Title from title frames
http://library.link/vocab/branchCode
  • net
Carrier category
online resource
Carrier category code
cr
Carrier MARC source
rdacarrier
Color
multicolored
Configuration of playback channels
monaural
Content category
two-dimensional moving image
Content type code
tdi
Content type MARC source
rdaconent
Contents
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
Control code
HST2124_1_3
Dimensions
unknown
Extent
1 online resource (1 streaming video file (64 min.)
File format
one file format
Governing access note
Access restricted to subscribers
Media category
  • video
  • computer
Media MARC source
  • rdamedia
  • rdamedia
Media type code
  • v
  • c
Medium for sound
other
Other physical details
color, sound)
Publisher number
2124
http://library.link/vocab/recordID
.b37230244
Sound
sound
Sound on medium or separate
sound on medium
Specific material designation
  • remote
  • other
System control number
  • HST212413
  • (UkLU-K)001155578
System details
  • Mode of access: World Wide Web
  • System requirements: Browser compatibility: updated Mozilla Firefox, Google Chrome, Safari or Internet Explorer 8+. Browser settings: enable JavaScript, enable cookies from the Henry Stewart Talks site. Required Desktop Browser plugins & viewers: Updated Adobe Flash Player & Adobe Acrobat Reader. Mobile device & operating system versions: Android v4.0+, iPhone 4+ (iOS v6.x+), iPad 2+ (iOS v6.x+), BlackBerry OS v7.0+, Windows Phone v6.5.1+
Video recording format
other

Library Locations

    • Deakin University Library - Geelong Waurn Ponds CampusBorrow it
      75 Pigdons Road, Waurn Ponds, Victoria, 3216, AU
      -38.195656 144.304955
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