Efficiency of haplotype frequency estimation when nuclear familiy information is included

Human Heredity

Volumn 54, Issue 1, 2002, Pages 45-53

  Becker, Tim ^a   Knapp, Michael ^a  

^a UNIVERSITY OF BONN   (Germany)

Author keywords

Efficiency; Familiy information; Fisher information; Haplotype frequency estimation; Nuclear families; Phase ambiguity; Single nucleotide polymorphism

Indexed keywords

ARTICLE; CALCULATION; CONTROLLED STUDY; FAMILY; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HETEROZYGOSITY; HUMAN; NUCLEAR FAMILY; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICAL ANALYSIS; STATISTICAL MODEL;

MARTES PENNANTI;

DATA INTERPRETATION, STATISTICAL; GENE FREQUENCY; HAPLOTYPES; HUMANS; LIKELIHOOD FUNCTIONS; NUCLEAR FAMILY; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 0036445068     PISSN: 00015652     EISSN: None     Source Type: Journal    
DOI: 10.1159/000066692     Document Type: Article

References (15)

1. 2-adrenergic receptor haplotypes alter receptor expression and predict in vivo responsiveness. Proc Natl Acad Sci USA 2000;97(19):10483-10488.
2. Weir BS: Genetic Data Analysis. Methods for Discrete Population Genetic Data. Sunderland, Sinauer, 1990.
3. Xie X, Ott J: Testing linkage disequilibrium between a disease and a marker locus. Am J Hum Genet 1993;53:A1107.
4. Exofficer L, Slatkin M: Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population. Mol Biol Evol 1995;12:921-927.
5. Hawley ME, Kidd KK: HAPLO: A program using the EM algorithm to estimate frequencies of multi-site haplotypes. J Hered 1995;86:409-411.
6. Fallin D, Schork NJ: Accuracy of haplotype frequency estimation for biallelic loci, via the expectation-maximization algorithm for unphased diploid genotype data. Am J Hum Genet 2000;67:947-959.
7. Hodge SE, Boehnke M, Spence MA: Loss of information due to ambiguous haplotyping of SNPs. Nat Genet 1999;21:360-361.
8. Zhao H, Zhang S, Merikangas KR, Trixler M, Wildenauer DB, Sun F, Kidd KK: Transmission/Disequilibrium tests using multiple tightly linked markers. Am J Hum Genet 2000;67:936-946.
9. Rohde K, Fuerst R: Haplotyping and estimation of haplotype frequencies for closely linked biallelic multilocus genetic phenotypes including family information. Human Mutation 2001;17:289-295.
10. Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES: Parametric and nonparametric linkage analysis: A unified multipoint approach. Am J Hum Genet 1996;58:1347-1363.
11. Clark A: Inference of haplotypes from PCR-amplified samples of dipoid populations. Mol Biol Evol 1998;7:111-122.
12. Michalatos-Beloin S, Tishkoff SA, Bentley KL, Kidd KK, Ruano G: Molecular haplotyping of genetic markers 10 kb apart by allele-specific long-range PCR. Nucleic Acids Res 1996;24:4841-4843.
13. Nickerson DA, Taylor SL, Weiss KM, Clark AG, Hutchinson RG, Stengard J, Salomaa V, Vartiainen E, Boerwinkle E, Sing CF: DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene. Nat Genet 1998;19:223-241.
14. Douglas JA, Boehnke M, Gillanders E, Trent JM, Gruber SB: Experimentally-derived haplotypes substantially increase the efficiency of linkage disequilibrium studies. Nature Genet 2001;28:361-364.
15. Lehmann: Theory of Point Estimation, New York, Chapman & Hall, 1983, pp 126-127.