Genotyping over 100,000 SNPs on a pair of oligonucleotide arrays
H Matsuzaki, S Dong, H Loi, X Di, G Liu, E Hubbell… - Nature …, 2004 - nature.com
H Matsuzaki, S Dong, H Loi, X Di, G Liu, E Hubbell, J Law, T Berntsen, M Chadha, H Hui…
Nature Methods, 2004•nature.comWe 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%.
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%.
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%.
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