GeneImp: Fast Imputation to Large Reference Panels Using Genotype Likelihoods from Ultralow Coverage Sequencing
نویسندگان
چکیده
منابع مشابه
Genotype imputation accuracy with different reference panels in admixed populations
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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Genotype imputation is a vital tool in genome-wide association studies (GWAS) and meta-analyses of multiple GWAS results. Imputation enables researchers to increase genomic coverage and to pool data generated using different genotyping platforms. HapMap samples are often employed as the reference panel. More recently, the 1000 Genomes Project resource is becoming the primary source for referenc...
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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...
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Such difficult analyses as disease association studies, which aim at mappping genetic variants underlying complex human diseases, rely on high-throughput genotyping techniques. However, a shortcoming of these techniques is the generation of missing calls. Computational inference of missing data represents a challenging alternative to genotyping again the missing regions. In this paper, we prese...
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MOTIVATION There is growing recognition that estimating haplotypes from high coverage sequencing of single samples in clinical settings is an important problem. At the same time very large datasets consisting of tens and hundreds of thousands of high-coverage sequenced samples will soon be available. We describe a method that takes advantage of these huge human genetic variation resources and r...
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ژورنال
عنوان ژورنال: Genetics
سال: 2017
ISSN: 1943-2631
DOI: 10.1534/genetics.117.200063