Search | VHL Regional Portal

Show: 20 | 50 | 100

Results 1 - 1 de 1

Filter

Genotyping over 100,000 SNPs on a pair of oligonucleotide arrays.

Matsuzaki, Hajime; Dong, Shoulian; Loi, Halina; Di, Xiaojun; Liu, Guoying; Hubbell, Earl; Law, Jane; Berntsen, Tam; Chadha, Monica; Hui, Henry; Yang, Geoffrey; Kennedy, Giulia C; Webster, Teresa A; Cawley, Simon; Walsh, P Sean; Jones, Keith W; Fodor, Stephen P A; Mei, Rui.

Nat Methods ; 1(2): 109-11, 2004 Nov.

Article in English | MEDLINE | ID: mdl-15782172

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%.

Subject(s)

Algorithms , Chromosome Mapping/methods , DNA Mutational Analysis/methods , Oligonucleotide Array Sequence Analysis/methods , Polymorphism, Single Nucleotide/genetics , Sequence Alignment/methods , Sequence Analysis, DNA/methods , Genetic Testing/methods , Genome, Human , Genotype , Humans , Oligonucleotide Array Sequence Analysis/instrumentation , Reproducibility of Results , Sensitivity and Specificity , Sequence Homology, Nucleic Acid

ABSTRACT

Subject(s)

SEND TO:

SELECTION OF CITATIONS

SEARCH DETAIL