PBAT: Tools for Family-Based Association Studies

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Family-based genome-wide association studies.

In the last 2 years, the effort to identify genes affecting common diseases and complex traits has been accelerated through the use of genome-wide association studies (GWAS). The availability of existing large collections of linkage data paved the way for the use of family-based GWAS. Although most published GWAS used population-based designs, family-based designs have played an important role,...

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Combining multiple family-based association studies

While high-throughput genotyping technologies are becoming readily available, the merit of using these technologies to perform genome-wide association studies has not been established. One major concern is that for studies of complex diseases and traits, the whole-genome approach requires such large sample sizes that both recruitment and genotyping pose considerable challenge. Here we propose a...

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Covariate adjustment in family-based association studies.

Family-based tests of association between a candidate locus and a disease evaluate how often a variant allele at the locus is transmitted from parents to offspring. These tests assume that in the absence of association, an affected offspring is equally likely to have inherited either one of the two homologous alleles carried by a parent. However, transmission distortion was documented in famili...

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A DNA pooling strategy for family-based association studies.

Genome-wide association scans for disease susceptibility genes of complex diseases require genotyping on a massive scale. A DNA pooling strategy for family-based association studies is described, which is robust to population stratification biases and to errors in pooling. It can achieve a statistical efficiency of 0.95 with approximately 1 of 8 or fewer genotyping efforts, and an efficiency of...

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A model for fine mapping in family based association studies.

Genome wide association studies for complex diseases are typically followed by more focused characterization of the identified genetic region. We propose a latent class model to evaluate a candidate region with several measured markers using observations on families. The main goal is to estimate linkage disequilibrium (LD) between the observed markers and the putative true but unobserved diseas...

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ژورنال

عنوان ژورنال: The American Journal of Human Genetics

سال: 2004

ISSN: 0002-9297

DOI: 10.1086/381563