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Genotyping over 100,000 SNPs on a pair of oligonucleotide arrays.
- Source :
-
Nature methods [Nat Methods] 2004 Nov; Vol. 1 (2), pp. 109-11. - Publication Year :
- 2004
-
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%.
- Subjects :
- Genetic Testing methods
Genome, Human
Genotype
Humans
Oligonucleotide Array Sequence Analysis instrumentation
Reproducibility of Results
Sensitivity and Specificity
Sequence Homology, Nucleic Acid
Algorithms
Chromosome Mapping methods
DNA Mutational Analysis methods
Oligonucleotide Array Sequence Analysis methods
Polymorphism, Single Nucleotide genetics
Sequence Alignment methods
Sequence Analysis, DNA methods
Subjects
Details
- Language :
- English
- ISSN :
- 1548-7091
- Volume :
- 1
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Nature methods
- Publication Type :
- Academic Journal
- Accession number :
- 15782172
- Full Text :
- https://doi.org/10.1038/nmeth718