Genotyping over 100,000 SNPs on a pair of oligonucleotide arrays.
other · Level V
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Abstract
We present a genotyping method for simultaneously scoring 116,204 SNPs using oligonucleotide arrays. At call rates >99%, reproducibility is >99.97% and accuracy, as measured by inheritance in trios and concordance with the HapMap Project, is >99.7%. Average intermarker distance is 23.6 kb, and 92% of the genome is within 100 kb of a SNP marker. Average heterozygosity is 0.30, with 105,511 SNPs having minor allele frequencies >5%.
Medical subject headings
- Algorithms
- Chromosome Mapping
- DNA Mutational Analysis
- Oligonucleotide Array Sequence Analysis
- Polymorphism, Single Nucleotide
- Sequence Alignment
- Sequence Analysis, DNA