This technology allows genotyping of the whole genome and profiling of genes and exons.
A large choice of genotyping chips is available in humans depending on the size, the number of samples, the location of genetic variation, and allelic frequency. Illumina chips with standard or customized content are designed to interrogate 300,000 to 5 million loci (SNPs and indels) simultaneously in 4, 8, or 24 sample formats with a possible packaging of 48, 96, or 288 samples.
These chips not only provide information on the SNP genotype but also on the copy number (CNV) that can reveal the presence of chromosomal abnormalities.
The success rate of genotype detection averages 98% or more.
Materials to provide
Elution Buffer Information.
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Raw intensity files (.idat format).
Final report of methylated and unmethylated cytosine ratios (.txt format).
Project report in GenomeStudio (.bsc format).
Sample sheet corresponding to the repair of samples on chips (.csv format).
Chip decoding file (.dmap format).
On-chip methylation probe distribution manifesto (.bmp format).
QC file corresponding to the % of probes that worked (Call Rates).
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