Title |
Combining information from linkage and association mapping for next-generation sequencing longitudinal family data
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Published in |
BMC Proceedings, June 2014
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DOI | 10.1186/1753-6561-8-s1-s34 |
Pubmed ID | |
Authors |
Brunilda Balliu, Hae-Won Uh, Roula Tsonaka, Stefan Boehringer, Quinta Helmer, Jeanine J Houwing-Duistermaat |
Abstract |
In this analysis, we investigate the contributions that linkage-based methods, such as identical-by-descent mapping, can make to association mapping to identify rare variants in next-generation sequencing data. First, we identify regions in which cases share more segments identical-by-descent around a putative causal variant than do controls. Second, we use a two-stage mixed-effect model approach to summarize the single-nucleotide polymorphism data within each region and include them as covariates in the model for the phenotype. We assess the impact of linkage disequilibrium in determining identical-by-descent states between individuals by using markers with and without linkage disequilibrium for the first part and the impact of imputation in testing for association by using imputed genome-wide association studies or raw sequence markers for the second part. We apply the method to next-generation sequencing longitudinal family data from Genetic Association Workshop 18 and identify a significant region at chromosome 3: 40249244-41025167 (p-value = 2.3 × 10(-3)). |
X Demographics
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United States | 1 | 100% |
Demographic breakdown
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Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
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Sweden | 1 | 8% |
Unknown | 12 | 92% |
Demographic breakdown
Readers by professional status | Count | As % |
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Researcher | 4 | 31% |
Student > Ph. D. Student | 3 | 23% |
Professor > Associate Professor | 2 | 15% |
Other | 1 | 8% |
Student > Master | 1 | 8% |
Other | 1 | 8% |
Unknown | 1 | 8% |
Readers by discipline | Count | As % |
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Agricultural and Biological Sciences | 4 | 31% |
Biochemistry, Genetics and Molecular Biology | 3 | 23% |
Mathematics | 2 | 15% |
Computer Science | 1 | 8% |
Medicine and Dentistry | 1 | 8% |
Other | 0 | 0% |
Unknown | 2 | 15% |