Accuracy of Inferred APOE Genotypes for a Range of Genotyping Arrays and Imputation Reference Panels.
Publication
, Journal Article
Lupton, MK; Medland, SE; Gordon, SD; Goncalves, T; MacGregor, S; Mackey, DA; Young, TL; Duffy, DL; Visscher, PM; Wray, NR; Nyholt, DR; Bain, L ...
Published in: J Alzheimers Dis
2018
Cohort studies investigating aging and dementia require APOE genotyping. We compared directly measured APOE genotypes to 'hard-call' genotypes derived from imputing genome-wide genotyping data from a range of platforms using several imputation panels. Older GWAS arrays imputed to 1000 Genomes Project (1KGP) phases and the Haplotype Reference Consortium (HRC) reference panels were able to achieve concordance rates of over 98% with stringent quality control (hard-call-threshold 0.8). However, this resulted in high levels of missingness (>12% with 1KGP and 5% with HRC). With recent GWAS arrays, concordance of 99% could be obtained with relatively lenient QC, resulting in no missingness.
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Published In
J Alzheimers Dis
DOI
EISSN
1875-8908
Publication Date
2018
Volume
64
Issue
1
Start / End Page
49 / 54
Location
Netherlands
Related Subject Headings
- Polymorphism, Single Nucleotide
- Neurology & Neurosurgery
- Male
- Humans
- Genotype
- Genome-Wide Association Study
- Gene Frequency
- Female
- Cohort Studies
- Apolipoproteins E
Citation
APA
Chicago
ICMJE
MLA
NLM
Lupton, M. K., Medland, S. E., Gordon, S. D., Goncalves, T., MacGregor, S., Mackey, D. A., … Martin, N. G. (2018). Accuracy of Inferred APOE Genotypes for a Range of Genotyping Arrays and Imputation Reference Panels. J Alzheimers Dis, 64(1), 49–54. https://doi.org/10.3233/JAD-171104
Lupton, Michelle K., Sarah E. Medland, Scott D. Gordon, Tabatha Goncalves, Stuart MacGregor, David A. Mackey, Terri L. Young, et al. “Accuracy of Inferred APOE Genotypes for a Range of Genotyping Arrays and Imputation Reference Panels.” J Alzheimers Dis 64, no. 1 (2018): 49–54. https://doi.org/10.3233/JAD-171104.
Lupton MK, Medland SE, Gordon SD, Goncalves T, MacGregor S, Mackey DA, et al. Accuracy of Inferred APOE Genotypes for a Range of Genotyping Arrays and Imputation Reference Panels. J Alzheimers Dis. 2018;64(1):49–54.
Lupton, Michelle K., et al. “Accuracy of Inferred APOE Genotypes for a Range of Genotyping Arrays and Imputation Reference Panels.” J Alzheimers Dis, vol. 64, no. 1, 2018, pp. 49–54. Pubmed, doi:10.3233/JAD-171104.
Lupton MK, Medland SE, Gordon SD, Goncalves T, MacGregor S, Mackey DA, Young TL, Duffy DL, Visscher PM, Wray NR, Nyholt DR, Bain L, Ferreira MA, Henders AK, Wallace L, Montgomery GW, Wright MJ, Martin NG. Accuracy of Inferred APOE Genotypes for a Range of Genotyping Arrays and Imputation Reference Panels. J Alzheimers Dis. 2018;64(1):49–54.
Published In
J Alzheimers Dis
DOI
EISSN
1875-8908
Publication Date
2018
Volume
64
Issue
1
Start / End Page
49 / 54
Location
Netherlands
Related Subject Headings
- Polymorphism, Single Nucleotide
- Neurology & Neurosurgery
- Male
- Humans
- Genotype
- Genome-Wide Association Study
- Gene Frequency
- Female
- Cohort Studies
- Apolipoproteins E