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A quality assessmen...
A quality assessment survey of SNP genotyping laboratories
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Lahermo, P (author)
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- Liljedahl, Ulrika (author)
- Uppsala universitet,Molekylär medicin
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Alnaes, Grethe (author)
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- Axelsson, Tomas (author)
- Uppsala universitet,Molekylär medicin
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Brookes, Anthony J (author)
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Ellonen, Pekka (author)
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Groop, Per-Henrik (author)
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- Halldén, Christer (author)
- Lund University,Lunds universitet,Klinisk kemi, Malmö,Forskargrupper vid Lunds universitet,Clinical Chemistry, Malmö,Lund University Research Groups
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- Holmberg, Dan (author)
- Umeå universitet,Medicinsk och klinisk genetik
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Holmberg, Kristina (author)
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Keinänen, Mauri (author)
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Kepp, Katrin (author)
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- Kere, Juha (author)
- Karolinska Institutet
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Kiviluoma, P (author)
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Kristensen, Vessela (author)
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Lindgren, Cecilia (author)
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- Odeberg, Jacob (author)
- Karolinska Institutet,KTH,Genteknologi
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- Osterman, Pia (author)
- Umeå universitet,Patologi
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Parkkonen, Maija (author)
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Saarela, Janna (author)
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Sterner, Maria (author)
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Strömqvist, Linda (author)
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Talas, Ulvi (author)
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Wessman, Maija (author)
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Palotie, Aarno (author)
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- Syvänen, Ann-Christine (author)
- Uppsala universitet,Molekylär medicin,SNP Technology Platform
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(creator_code:org_t)
- Hindawi Limited, 2006
- 2006
- English.
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In: Human Mutation. - : Hindawi Limited. - 1059-7794 .- 1098-1004. ; 27:7, s. 711-714
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http://dx.doi.org/10...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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https://lup.lub.lu.s...
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https://urn.kb.se/re...
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Abstract
Subject headings
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- To survey the quality of SNP genotyping, a joint Nordic quality assessment (QA) round was organized between 11 laboratories in the Nordic and Baltic countries. The QA round involved blinded genotyping of 47 DNA samples for 18 or six randomly selected SNPs. The methods used by the participating laboratories included all major platforms for small- to medium-size SNP genotyping. The laboratories used their standard procedures for SNP assay design, genotyping, and quality control. Based on the joint results from all laboratories, a consensus genotype for each DNA sample and SNP was determined by the coordinator of the survey, and the results from each laboratory were compared to this genotype. The overall genotyping accuracy achieved in the survey was excellent. Six laboratories delivered genotype data that were in full agreement with the consensus genotype. The average accuracy per SNP varied from 99.1 to 100% between the laboratories, and it was frequently 100% for the majority of the assays for which SNP genotypes were reported. Lessons from the survey are that special attention should be given to the quality of the DNA samples prior to genotyping, and that a conservative approach for calling the genotypes should be used to achieve a high accuracy.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- Clinical Laboratory Techniques/*standards
- Estonia
- Finland
- Genotype
- Norway
- Polymorphism; Single Nucleotide
- Quality Control
- Research Support; Non-U.S. Gov't
- Sequence Analysis; DNA/*standards
- Sweden
- quality assessment
- SNP
- genotyping
Publication and Content Type
- vet (subject category)
- art (subject category)
Find in a library
To the university's database
- By the author/editor
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Lahermo, P
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Liljedahl, Ulrik ...
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Alnaes, Grethe
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Axelsson, Tomas
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Brookes, Anthony ...
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Ellonen, Pekka
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show more...
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Groop, Per-Henri ...
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Halldén, Christe ...
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Holmberg, Dan
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Holmberg, Kristi ...
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Keinänen, Mauri
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Kepp, Katrin
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Kere, Juha
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Kiviluoma, P
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Kristensen, Vess ...
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Lindgren, Cecili ...
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Odeberg, Jacob
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Osterman, Pia
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Parkkonen, Maija
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Saarela, Janna
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Sterner, Maria
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Strömqvist, Lind ...
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Talas, Ulvi
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Wessman, Maija
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Palotie, Aarno
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Syvänen, Ann-Chr ...
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Human Mutation
- By the university
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Uppsala University
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Lund University
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Royal Institute of Technology
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Umeå University
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Karolinska Institutet