Genotype Imputation with Millions of Reference Samples
نویسندگان
چکیده
منابع مشابه
Estimation of genotype imputation accuracy using reference populations with varying degrees of relationship and marker density panel
Genotype imputation from low-density to high-density (SNP) chips is an important step before applying genomic selection, because denser chips can provide more reliable genomic predictions. In the current research, the accuracy of genotype imputation from low and moderate-density panels (5K and 50K) to high-density panels in the purebred and crossbred populations was assessed. The simulated popu...
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Genome-wide association studies have successfully identified common variants that are associated with complex diseases. However, the majority of genetic variants contributing to disease susceptibility are yet to be discovered. It is now widely believed that multiple rare variants are likely to be associated with complex diseases. Using custom-made chips or next-generation sequencing to uncover ...
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The recent dramatic cost reduction of next-generation sequencing technology enables investigators to assess most variants in the human genome to identify risk variants for complex diseases. However, sequencing large samples remains very expensive. For a study sample with existing genotype data, such as array data from genome-wide association studies, a cost-effective approach is to sequence a s...
متن کاملGenotype imputation.
Genotype imputation is now an essential tool in the analysis of genome-wide association scans. This technique allows geneticists to accurately evaluate the evidence for association at genetic markers that are not directly genotyped. Genotype imputation is particularly useful for combining results across studies that rely on different genotyping platforms but also increases the power of individu...
متن کاملGenotype Imputation with Thousands of Genomes
Genotype imputation is a statistical technique that is often used to increase the power and resolution of genetic association studies. Imputation methods work by using haplotype patterns in a reference panel to predict unobserved genotypes in a study dataset, and a number of approaches have been proposed for choosing subsets of reference haplotypes that will maximize accuracy in a given study p...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2016
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2015.11.020