000 01881ngm a2200349 a 4500
001 HST2271_1_2
003 UkLoHST
006 m c
007 cr|cna|||a||||
007 vz|czazum
008 080121s2009 enk|||||||||||s|||v|eng d
028 5 0 _a2271
_bHenry Stewart Talks
035 _a(UkLoHST)1408
035 _a(UkLU-K)001155589
040 _aUkLU-K
_beng
_cUkLU-K
100 1 _aLevy, Samuel,
_u(J. Craig Venter Institute, USA)
_4spk
245 1 0 _aIndels, CNVs and the spectrum of human genome variation
_h[electronic resource] /
_cSamuel Levy.
260 _aLondon :
_bHenry Stewart Talks,
_c2009.
300 _a1 online resource (1 streaming video file (40 min.) :
_bcolor, sound).
490 1 _aCopy number variation : expanding the repertoire of genetic alterations in studies of natural variation and disease,
_x2056-452X
500 _aAnimated audio-visual presentation with synchonized narration.
500 _aTitle from title frames.
505 0 _aContents: 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.
506 _aAccess restricted to subscribers.
538 _aMode of access: World Wide Web.
650 2 _aGene Dosage.
650 2 _aGenetic Variation.
650 2 _aGenome, Human.
830 0 _aHenry Stewart talks.
_pBiomedical & life sciences collection.
_pCopy number variation.
856 4 0 _uhttps://hstalks.com/bs/1408/
856 4 2 _uhttps://hstalks.com/bs/p/439/
_3Series
999 _c77699
_d77699