publication . Article . 2011

Search for compound heterozygous effects in exome sequence of unrelated subjects

Christensen, G Bryce; Lambert, Christophe G;
Open Access English
  • Published: 01 Nov 2011 Journal: BMC Proceedings, volume 5, issue Suppl 9, page S95 (issn: 1753-6561, Copyright policy)
  • Publisher: Springer Nature
To enable the assessment of compound heterozygosity, we propose a simple approach for incorporating genotype phase in a rare variant collapsing procedure for the analysis of DNA sequence data. When multiple variants are identified within a gene, knowing the phase of each variant may provide additional statistical power to detect associations with phenotypes that follow a recessive or additive inheritance pattern. We begin by phasing all marker data; then, we collapse nonsynonymous single-nucleotide polymorphisms within genes on each phased haplotype, resulting in a single diploid genotype for each gene, which represents whether one or both haplotypes carry a non...
free text keywords: General Biochemistry, Genetics and Molecular Biology, General Medicine, Biology, Bioinformatics, Genetics, Phenotype, Compound heterozygosity, Haplotype, Exome, Nonsynonymous substitution, Allele, Genotype, Dominance (genetics), Proceedings
Funded by
NIH| Genetic Analysis of Common Diseases: An Evaluation
  • Funder: National Institutes of Health (NIH)
  • Project Code: 5R01GM031575-22

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