Haplotype reference consortium panel: Practical implications of imputations with large reference panels

Recently, the Haplotype Reference Consortium (HRC) released a large imputation panel that allows more accurate imputation of genetic variants. In this study, we compared a set of directly assayed common and rare variants from an exome array to imputed genotypes, that is, 1000 genomes project (1000GP...

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Veröffentlicht in:	Human mutation 2017-08, Vol.38 (8), p.1025-1032
Hauptverfasser:	Iglesias, Adriana I., der Lee, Sven J., Bonnemaijer, Pieter W.M., Höhn, René, Nag, Abhishek, Gharahkhani, Puya, Khawaja, Anthony P., Broer, Linda, Foster, Paul J., Hammond, Christopher J., Hysi, Pirro G., Leeuwen, Elisabeth M., MacGregor, Stuart, Mackey, David A., Mazur, Johanna, Nickels, Stefan, Uitterlinden, André G., Klaver, Caroline C.W., Amin, Najaf, Duijn, Cornelia M.
Format:	Artikel
Sprache:	eng
Schlagworte:	1000 Genomes Project reference panel association studies Consortia Exome - genetics Gene Frequency - genetics Gene mapping Genetic Variation - genetics Genome, Human - genetics Genome-Wide Association Study Genomes Genotype Genotypes Glaucoma Haplotype Reference Consortium Haplotypes Haplotypes - genetics Humans imputation Meta-analysis Polymorphism, Single Nucleotide - genetics vertical cup‐disc ratio
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