Genome scanning for complex disease genes using the transmission/disequilibrium test and haplotype-based haplotype relative risk
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Updated: Nov 4, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
1Department of Psychiatry, Columbia University, New York, NY 10032, USA.
Abstract:
Two tests for allelic association were applied to a simulated complex disease for the Genetic Analysis Workshop 9. The transmission/disequilibrium test [Spielman et al., 1993] and the haplotype-based haplotype relative risk approach [Terwilliger and Ott, 1992] were used to detect disease-associated alleles in a set of 360 computer-simulated markers located on six chromosomes and genotyped in 200 nuclear families. This analysis emulates a genome-based search for linked markers. Computer simulations were also performed to clarify statistical properties of the TDT.
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