A quality assessment survey of SNP genotyping laboratories

Human Mutation

Volumn 27, Issue 7, 2006, Pages 711-714

  Lahermo, Päivi ^a   Liljedahl, Ulrika ^b   Alnaes, Grethe ^c   Axelsson, Tomas ^b   Brookes, Anthony J ^d,m   Ellonen, Pekka ^e   Groop, Per Henrik ^f   Halldén, Christer ^g   Holmberg, Dan ^h   Holmberg, Kristina ⁱ   Keinänen, Mauri ^j   Kepp, Katrin ^j,n   Kere, Juha ^l   Kiviluoma, Päivi ^l   Kristensen, Vessela ^c   Lindgren, Cecilia ^l   Odeberg, Jacob ⁱ   Osterman, Pia ^h   Parkkonen, Maija ^f   Saarela, Janna ^e   Sterner, Maria ^g   Strömqvist, Linda ^d,m   Talas, Ulvi ^k   Wessman, Maija ^f   Palotie, Aarno ^a   Syvänen, Ann Christine ^b   more..

^a UNIVERSITY OF HELSINKI   (Finland)

^b UPPSALA UNIVERSITY   (Sweden)

^c OSLO UNIVERSITY HOSPITAL   (Norway)

^d KAROLINSKA INSTITUTE   (Sweden)

^e NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^f HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^g LUND UNIVERSITY HOSPITAL   (Sweden)

^h UMEÅ UNIVERSITY   (Sweden)

ⁱ ROYAL INSTITUTE OF TECHNOLOGY   (Sweden)

^j Labquality   (Finland)

^k Asper Biotech Ltd   (Estonia)

^l KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^m UNIVERSITY OF LEICESTER   (United Kingdom)

ⁿ UNIVERSITY OF TARTU   (Estonia)

more..

Author keywords

Genotyping; Quality assessment; SNP

Indexed keywords

DNA; PRIMER DNA;

ACCURACY; BALTIC STATES; CONSENSUS SEQUENCE; DNA DETERMINATION; DNA EXTRACTION; DNA HYBRIDIZATION; FLUORESCENCE POLARIZATION; GENE SEQUENCE; GENOTYPE; GOOD LABORATORY PRACTICE; HUMAN; MATRIX ASSISTED LASER DESORPTION IONIZATION TIME OF FLIGHT MASS SPECTROMETRY; MICROARRAY ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM;

CLINICAL LABORATORY TECHNIQUES; ESTONIA; FINLAND; GENOTYPE; NORWAY; POLYMORPHISM, SINGLE NUCLEOTIDE; QUALITY CONTROL; SEQUENCE ANALYSIS, DNA; SWEDEN;

EID: 33745728341     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20346     Document Type: Review

References (10)

1. Bell PA, Chaturvedi S, Gelfand CA, Huang CY, Kochersperger M, Kopla R, Modica F, Pohl M, Varde S, Zhao R, Zhao X, Boyce-Jacino M. 2002. SNPstream UHT: ultra-high throughput SNP genotyping for pharmacogenomics and drug discovery. Biotechniques 30:S70-S77.
2. Chen X, Levine L, Kwok PY. 1999. Fluorescence polarization in homogeneous nucleic acid analysis. Genome Res 9:492-498.
3. Edman CF, Raymond DE, Wu DJ, Tu E, Sosnowski RG, Butler WF, Nerenberg M, Heller MJ. 1997. Electric field directed nucleic acid hybridization on microchips. Nucleic Acids Res 25:4907-4914.
4. Hattersley AT, McCarthy MI. 2005. What makes a good genetic association study. Lancet 366:1315-1323.
5. Jobs M, Howell WM, Stromqvist L, Mayr T, Brookes AJ. 2003. DASH-2: flexible, low-cost, and high-throughput SNP genotyping by dynamic allele-specific hybridization on membrane arrays. Genome Res 13:916-924.
6. Jurinke C, van den Boom D, Cantor CR, Koster H. 2002. Automated genotyping using the DNA MassArray technology. Methods Mol Biol 187:179-192.
7. Kurg A, Tonisson N, Georgiou I, Shumaker J, Tollett J, Metspalu A. 2000. Arrayed primer extension: solid-phase four-color DNA resequencing and mutation detection technology. Genet Test 4:1-7.
8. Livak KJ. 1999. Allelic discrimination using fluorogenic probes and the 5′ nuclease assay. Genet Anal 14:143-149.
9. Pastinen T, Raitio M, Lindroos K, Tainola P, Peltonen L, Syvanen AC. 2000. A system for specific, high-throughput genotyping by allele-specific primer extension on microarrays. Genome Res 10:1031-1042.
10. Ronaghi M, Uhlen M, Nyren P. 1998. A sequencing method based on real-time pyrophosphate. Science 281:363-365.