Genotype imputation is now an essential tool in the analysis of genomewideassociation scans. This technique allows geneticists to accuratelyevaluate the evidence for association at genetic markers that are not directlygenotyped. Genotype imputation is particularly useful for combiningresults across studies that rely on different genotyping platformsbut also increases the power of individual scans. Here, we review thehistory and theoretical underpinnings of the technique. To illustrateperformance of the approach, we summarize results from several genemapping studies. Finally, we preview the role of genotype imputationin an era when whole genome resequencing is becoming increasinglycommon

Genotype Imputation

Serena Sanna;
2009

Abstract

Genotype imputation is now an essential tool in the analysis of genomewideassociation scans. This technique allows geneticists to accuratelyevaluate the evidence for association at genetic markers that are not directlygenotyped. Genotype imputation is particularly useful for combiningresults across studies that rely on different genotyping platformsbut also increases the power of individual scans. Here, we review thehistory and theoretical underpinnings of the technique. To illustrateperformance of the approach, we summarize results from several genemapping studies. Finally, we preview the role of genotype imputationin an era when whole genome resequencing is becoming increasinglycommon
2009
Istituto di Ricerca Genetica e Biomedica - IRGB
Imputation
sequence
inference
HapMap
1000 Genomes
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.14243/45730
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