atgactgcgtgtcatg cca g gctaactgcatg ctgatcgtactcgatc atgtggttaagtactc gtcaatcgc t tgcata
DESCRIPTION
N Chr7. Dup Chr7. Microscopically-visible abnormalities ~0.4-0.6% of population -disease risk depends on type of alteration. ATGACTGCGTGTCATG CCA G GCTAACTGCATG CTGATCGTACTCGATC ATGTGGTTAAGTACTC GTCAATCGC T TGCATA TGTCTAGTCGCTAGCT GTACTCGATCGATGCA CTGATCATTTCCCGAG CGTATACTGCGTCCAA. - PowerPoint PPT PresentationTRANSCRIPT
ATGACTGCGTGTCATGCCAGGCTAACTGCATGCTGATCGTACTCGATCATGTGGTTAAGTACTCGTCAATCGCTTGCATATGTCTAGTCGCTAGCTGTACTCGATCGATGCACTGATCATTTCCCGAGCGTATACTGCGTCCAA
Dup Chr7
N Chr7
Microscopically-visible abnormalities~0.4-0.6% of population-disease risk depends on type of alteration
SNP variants-100% of population-percent associated with disease?
Sub-microscopic structural variants~1kb to 3 Mb deletions, duplications, copynumber variants -100% of populations-de novo frequency?-meiotic and mitotic stability?-how do they affect gene expression?-disease risk?
What is content of structural variation in the human genome?What component of that is involved in disease susceptibility?
Technologies are good for finding >50kb changesTechnologies are good for finding >50kb changesComparative Genome Hybridisation:Whole Genome TilePath (WGTP array)
Comparative Intensity Analysis:Affymetrix 500K Early Access SNP chip
TestDNA
Reference DNA
•26,973 large insert clones •94.4% of euchromatin
TestDNA 1
TestDNA 2
Constructing a CNV map of the human genome
Matt Hurles/Nigel Carter (Sanger), Charles Lee (Harvard), Keith Jones (Affymetrix), Hiro Aburatani (Univ. of Tokyo), Xavier Estivill (Spain), Steve Scherer (Toronto)
-269 Hapmap samples examined using tiling BAC + Affy 500k
-1448 CNVs
-360 Mb of CNVs in 269 HapMap samples covering 12%Of genome
-avg. size 254 kb
-avg. of 111 CNVs per genome
~10-20 Mb CNV per genome
-overlap 2,909 genes
-overlap 286 OMIM genes
Consortium unpublished