PMID- 19381978
OWN - NLM
STAT- MEDLINE
DCOM- 20090506
LR  - 20090421
IS  - 1064-3745 (Print)
IS  - 1064-3745 (Linking)
VI  - 529
DP  - 2009
TI  - Whole-genome genotyping on bead arrays.
PG  - 197-213
LID - 10.1007/978-1-59745-538-1_13 [doi]
AB  - In this review, we describe the laboratory implementation of Infinium whole 
      genome genotyping (WGG) technology for whole genome association studies and copy 
      number studies. Briefly, the Infinium WGG assay employs a single tube whole 
      genome amplification reaction to amplify the entire genome; genomic loci of 
      interest are captured on an array by specific hybridization of picomolar 
      concentrations amplified gDNA. After target capture, single nucleotide 
      polymorphisms (SNPs) are genotyped on the array by a primer extension reaction 
      using hapten-labeled nucleotides. The resultant hapten signal is amplified by 
      immunhistochemical sandwich staining and the array is read out on a high 
      resolution confocal scanner. We have combined this Infinium assay with 
      high-density BeadChips to create the first array platform capable of genotyping 
      over 1 million SNPs per slide. Additionally, the complete Infinium assay is 
      automated using Tecan GenePaint slide processing system. Hybridization, washing, 
      array-based primer extension and staining are performed directly in the Tecan 
      capillary gap Te-Flow Through chambers. This automation process greatly increases 
      assay robustness and throughput while enabling Laboratory Information Management 
      System (LIMS) control of sample tracking. Finally, we give several examples of 
      how this advance in genotyping technology is being applied in whole genome 
      association and copy number studies.
FAU - Gunderson, Kevin L
AU  - Gunderson KL
AD  - Illumina, Inc, San Diego, CA, USA.
LA  - eng
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PL  - United States
TA  - Methods Mol Biol
JT  - Methods in molecular biology (Clifton, N.J.)
JID - 9214969
RN  - 0 (DNA Primers)
SB  - IM
MH  - DNA Primers/metabolism
MH  - Genome-Wide Association Study/*methods
MH  - Genotype
MH  - HL-60 Cells
MH  - Humans
MH  - *Microspheres
MH  - Oligonucleotide Array Sequence Analysis/*methods
MH  - Staining and Labeling
EDAT- 2009/04/22 09:00
MHDA- 2009/05/07 09:00
CRDT- 2009/04/22 09:00
PHST- 2009/04/22 09:00 [entrez]
PHST- 2009/04/22 09:00 [pubmed]
PHST- 2009/05/07 09:00 [medline]
AID - 10.1007/978-1-59745-538-1_13 [doi]
PST - ppublish
SO  - Methods Mol Biol. 2009;529:197-213. doi: 10.1007/978-1-59745-538-1_13.