On the identification of disease mutations by the analysis of haplotype similarity and goodness of fit.

doi:10.1086/373881

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Article

On the identification of disease mutations by the analysis of haplotype similarity and goodness of fit.

American journal of human genetics - 1 Apr 2003

Tzeng Jung-Ying, Devlin B, Wasserman Larry, Roeder Kathryn

Abstract excerpt

The observation that haplotypes from a particular region of the genome differ between affected and unaffected individuals or between chromosomes transmitted to affected individuals versus those not transmitted is sound evidence for a disease-liability mutation in the region. Tests for differentiation of haplotype distributions often take the form of either Pearson's chi(2) statistic or tests based on the...

Topics

Chromosomes, Human
Genetic Diseases, Inborn
Genetic Markers
Haplotypes
Humans
Models, Genetic
Models, Statistical
Mutation
Reproducibility of Results

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Identifiers

PMID: 12610778
DOI: 10.1086/373881
PMCID: PMC1180352

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