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| PMID |
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| TITLE |
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| Accuracy of Inferred APOE Genotypes for a Range of Genotyping Arrays and Imputation Reference Panels. |
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| ABSTRACT |
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| 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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| DATE PUBLISHED |
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| HISTORY |
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| PUBSTATUS |
PUBSTATUSDATE |
| pubmed |
2018/06/06 06:00 |
| medline |
2019/06/27 06:00 |
| entrez |
2018/06/06 06:00 |
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| AUTHORS |
|
| NAME |
COLLECTIVENAME |
LASTNAME |
FORENAME |
INITIALS |
AFFILIATION |
AFFILIATIONINFO |
| Lupton MK |
|
Lupton |
Michelle K |
MK |
|
QIMR Berghofer Medical Research Institute, Brisbane, Australia. |
| Medland SE |
|
Medland |
Sarah E |
SE |
|
QIMR Berghofer Medical Research Institute, Brisbane, Australia. |
| Gordon SD |
|
Gordon |
Scott D |
SD |
|
QIMR Berghofer Medical Research Institute, Brisbane, Australia. |
| Goncalves T |
|
Goncalves |
Tabatha |
T |
|
QIMR Berghofer Medical Research Institute, Brisbane, Australia. |
| MacGregor S |
|
MacGregor |
Stuart |
S |
|
QIMR Berghofer Medical Research Institute, Brisbane, Australia. |
| Mackey DA |
|
Mackey |
David A |
DA |
|
University of Western Australia Centre for Ophthalmology and Visual Science, Lions Eye Institute, Perth, Australia. |
| Young TL |
|
Young |
Terri L |
TL |
|
Department of Ophthalmology and Visual Sciences, University of Wisconsin, Madison, WI, USA. |
| Duffy DL |
|
Duffy |
David L |
DL |
|
QIMR Berghofer Medical Research Institute, Brisbane, Australia. |
| Visscher PM |
|
Visscher |
Peter M |
PM |
|
Queensland Brain Institute, University of Queensland, Brisbane, Australia. |
| Wray NR |
|
Wray |
Naomi R |
NR |
|
Queensland Brain Institute, University of Queensland, Brisbane, Australia. |
| Nyholt DR |
|
Nyholt |
Dale R |
DR |
|
Institute of Health and Biomedical Innovation, Queensland University of Technology, Brisbane, Australia. |
| Bain L |
|
Bain |
Lisa |
L |
|
QIMR Berghofer Medical Research Institute, Brisbane, Australia. |
| Ferreira MA |
|
Ferreira |
Manuel A |
MA |
|
QIMR Berghofer Medical Research Institute, Brisbane, Australia. |
| Henders AK |
|
Henders |
Anjali K |
AK |
|
Institute for Molecular Bioscience, University of Queensland, Brisbane, Australia. |
| Wallace L |
|
Wallace |
Leanne |
L |
|
Institute for Molecular Bioscience, University of Queensland, Brisbane, Australia. |
| Montgomery GW |
|
Montgomery |
Grant W |
GW |
|
Queensland Brain Institute, University of Queensland, Brisbane, Australia. |
| Wright MJ |
|
Wright |
Margaret J |
MJ |
|
Centre for Advanced Imaging, University of Queensland, Brisbane, Australia. |
| Martin NG |
|
Martin |
Nicholas G |
NG |
|
QIMR Berghofer Medical Research Institute, Brisbane, Australia. |
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| INVESTIGATORS |
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| JOURNAL |
|
| VOLUME: 64 |
| ISSUE: 1 |
| TITLE: Journal of Alzheimer's disease : JAD |
| ISOABBREVIATION: J Alzheimers Dis |
| YEAR: 2018 |
| MONTH: |
| DAY: |
| MEDLINEDATE: |
| SEASON: |
| CITEDMEDIUM: Internet |
| ISSN: 1875-8908 |
| ISSNTYPE: Electronic |
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| MEDLINE JOURNAL |
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| MEDLINETA: J Alzheimers Dis |
| COUNTRY: Netherlands |
| ISSNLINKING: 1387-2877 |
| NLMUNIQUEID: 9814863 |
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| PUBLICATION TYPE |
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| PUBLICATIONTYPE TEXT |
| Journal Article |
| Research Support, N.I.H., Extramural |
| Research Support, Non-U.S. Gov't |
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| COMMENTS AND CORRECTIONS |
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| GRANTS |
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| GENERAL NOTE |
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| KEYWORDS |
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| KEYWORD |
| Alzheimer’s disease |
| ApoE receptor |
| cohort studies |
| computational biology |
| genetic association studies |
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| MESH HEADINGS |
|
| DESCRIPTORNAME |
QUALIFIERNAME |
| Alzheimer Disease |
genetics |
| Apolipoproteins E |
genetics |
| Cohort Studies |
genetics |
| Female |
genetics |
| Gene Frequency |
genetics |
| Genome-Wide Association Study |
genetics |
| Genotype |
genetics |
| Humans |
genetics |
| Male |
genetics |
| Polymorphism, Single Nucleotide |
genetics |
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| SUPPLEMENTARY MESH |
|
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| GENE SYMBOLS |
|
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| CHEMICALS |
|
| REGISTRYNUMBER |
NAMEOFSUBSTANCE |
| 0 |
Apolipoproteins E |
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| OTHER ID's |
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