0000000000843293

AUTHOR

Pieter W M Bonnemaijer

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

2017

Contains fulltext : 177754.pdf (Publisher’s version ) (Open Access) 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) and HRC. We showed that imputation using the HRC panel improved the concordance between assayed and imputed genotypes at common, and especially, low-frequency variants. Furthermore, we performed a genome-wide association meta-analysis of vertical cup-disc ratio, a highly heritable endophenotype of glaucoma, in four cohorts usin…

0301 basic medicineGenotypeConcordanceGenome-wide association study610 Medicine & healthBiologyPolymorphism Single NucleotideSensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]03 medical and health sciencesGene FrequencyGeneticsAssociation studies Imputation 1000 Genomes Project reference Panel Haplotype Reference Consortium Vertical cup-disc ratioHumansExome1000 Genomes Project610 Medicine & healthExomeAllele frequencyGenetics (clinical)Genetic associationGeneticsGenome HumanHaplotypeGenetic Variation030104 developmental biologyHaplotypesImputation (genetics)Genome-Wide Association Study
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