Genome scanning for linkage: An overview

Journal Article · Sun Sep 01 04:00:00 EDT 1996 · American Journal of Human Genetics

OSTI ID:478518

Whittemore, A S ^[1]

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1. Stanford Univ. School of Medicine, CA (United States)

Several different methods for linkage analysis are shown to arise from a single likelihood function L for the observed allele-sharing data at multiple markers in a chromosomal region. These include classical parametric lod-score methods, nonparametric or {open_quotes}model-free{close_quotes} affected-pedigree-member (APM) methods, and the Gaussian process method. Setting the methods in the context of the likelihood function L clarifies their underlying assumptions. A test statistic derived from L, the efficient score statistic, is introduced. It is asymptotically equivalent to the lod score, but it can be easier to compute when the penetrances and frequencies of alleles of the trait gene are not known. APM test statistics and the Gaussian lod score are shown to be special cases of efficient score statistics. This unified framework facilitates exploration of a range of models for the effects of a putative trait-predisposing gene, and it facilitates sensitivity analyses to examine the consequences of model misspecification. 25 refs., 1 fig., 3 tabs.

• OSTI ID: 478518
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: 3 Vol. 59; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
99 GENERAL AND MISCELLANEOUS
BIOLOGICAL MARKERS
GENES
GENETIC MAPPING
HUMAN CHROMOSOMES
MATHEMATICAL MODELS
SENSITIVITY
STATISTICAL MODELS
STATISTICS
STOCHASTIC PROCESSES