-
1
-
-
33645213803
-
Distribution of human SNPs and its effect on high-throughput genotyping
-
Koboldt, D.C., R.D. Miller, and P.Y. Kwok. 2006. Distribution of human SNPs and its effect on high-throughput genotyping. Hum. Mutat. 27:249-254.
-
(2006)
Hum. Mutat
, vol.27
, pp. 249-254
-
-
Koboldt, D.C.1
Miller, R.D.2
Kwok, P.Y.3
-
2
-
-
30044440451
-
Genotyping errors: Causes, consequences and solutions
-
Pompanon, F., A. Bonin, E. Bellemain, and P. Taberlet. 2005. Genotyping errors: causes, consequences and solutions. Nat. Rev. Genet. 6:847-859.
-
(2005)
Nat. Rev. Genet
, vol.6
, pp. 847-859
-
-
Pompanon, F.1
Bonin, A.2
Bellemain, E.3
Taberlet, P.4
-
3
-
-
0036157589
-
Detection and integration of genotyping errors in statistical genetics
-
Sobel, E., J.C. Papp, and K. Lange. 2002. Detection and integration of genotyping errors in statistical genetics. Am. J. Hum. Genet. 70:496-508.
-
(2002)
Am. J. Hum. Genet
, vol.70
, pp. 496-508
-
-
Sobel, E.1
Papp, J.C.2
Lange, K.3
-
4
-
-
36849078874
-
Allelic drop-out in the LDLR gene affects mutation detection in familial hypercholesterolemia
-
Laios, E. and K. Glynou. 2008. Allelic drop-out in the LDLR gene affects mutation detection in familial hypercholesterolemia. Clin. Biochem. 41:38-40.
-
(2008)
Clin. Biochem
, vol.41
, pp. 38-40
-
-
Laios, E.1
Glynou, K.2
-
5
-
-
33746271337
-
Allelic drop-out may occur with a primer binding site polymorphism for the commonly used RFLP assay for the -1131T>C polymorphism of the Apolipoprotein AV gene
-
Ward, K.J., S. Ellard, C.S. Yajnik, T.M. Frayling, A.T. Hattersley, P.N. Venigalla, and G.R. Chandak. 2006. Allelic drop-out may occur with a primer binding site polymorphism for the commonly used RFLP assay for the -1131T>C polymorphism of the Apolipoprotein AV gene. Lipids Health Dis. 5:11.
-
(2006)
Lipids Health Dis
, vol.5
, pp. 11
-
-
Ward, K.J.1
Ellard, S.2
Yajnik, C.S.3
Frayling, T.M.4
Hattersley, A.T.5
Venigalla, P.N.6
Chandak, G.R.7
-
6
-
-
11144279421
-
Allelic drop-out in the STR system ACTBP2 (SE33) as a result of mutations in the primer binding region
-
Heinrich, M., M. Muller, S. Rand, B. Brinkmann, and C. Hohoff. 2004. Allelic drop-out in the STR system ACTBP2 (SE33) as a result of mutations in the primer binding region. Int. J. Legal Med. 118:361-363.
-
(2004)
Int. J. Legal Med
, vol.118
, pp. 361-363
-
-
Heinrich, M.1
Muller, M.2
Rand, S.3
Brinkmann, B.4
Hohoff, C.5
-
7
-
-
33947398015
-
Robustness of single-base extension against mismatches at the site of primer attachment in a clinical assay
-
Kirsten, H., D. Teupser, J. Weissfuss, G. Wolfram, F. Emmrich, and P. Ahnert. 2007. Robustness of single-base extension against mismatches at the site of primer attachment in a clinical assay. J. Mol. Med. 85:361-369.
-
(2007)
J. Mol. Med
, vol.85
, pp. 361-369
-
-
Kirsten, H.1
Teupser, D.2
Weissfuss, J.3
Wolfram, G.4
Emmrich, F.5
Ahnert, P.6
-
8
-
-
33847688114
-
Primer-site SNPs mask mutations
-
Quinlan, A.R. and G.T. Marth. 2007. Primer-site SNPs mask mutations. Nat. Methods 4:192.
-
(2007)
Nat. Methods
, vol.4
, pp. 192
-
-
Quinlan, A.R.1
Marth, G.T.2
-
9
-
-
58149360562
-
Robust SNP genotyping by multiplex PCR and arrayed primer extension
-
Podder, M., J. Ruan, B.W. Tripp, Z.E. Chu, and S.J. Tebbutt. 2008. Robust SNP genotyping by multiplex PCR and arrayed primer extension. BMC Med. Genomics 1:5.
-
(2008)
BMC Med. Genomics
, vol.1
, pp. 5
-
-
Podder, M.1
Ruan, J.2
Tripp, B.W.3
Chu, Z.E.4
Tebbutt, S.J.5
-
10
-
-
33845749237
-
Dynamic variable selection in SNP genotype autocalling from APEX microarray data
-
Podder, M., W.J. Welch, R.H. Zamar, and S.J. Tebbutt. 2006. Dynamic variable selection in SNP genotype autocalling from APEX microarray data. BMC Bioinformatics 7:521.
-
(2006)
BMC Bioinformatics
, vol.7
, pp. 521
-
-
Podder, M.1
Welch, W.J.2
Zamar, R.H.3
Tebbutt, S.J.4
-
11
-
-
12744269458
-
SNP Chart: An integrated platform for visualization and interpretation of microarray genotyping data
-
Tebbutt, S.J., I.V. Opushnyev, B.W. Tripp, A.M. Kassamali, W.L. Alexander, and M.I. Andersen. 2005. SNP Chart: an integrated platform for visualization and interpretation of microarray genotyping data. Bioinformatics 21:124-127.
-
(2005)
Bioinformatics
, vol.21
, pp. 124-127
-
-
Tebbutt, S.J.1
Opushnyev, I.V.2
Tripp, B.W.3
Kassamali, A.M.4
Alexander, W.L.5
Andersen, M.I.6
-
12
-
-
33646145316
-
MACGT: Multi-dimensional automated clustering genotyping tool for analysis of microarray-based mini-sequencing data
-
Walley, D.C., B.W. Tripp, Y.C. Song, K.R. Walley, and S.J. Tebbutt. 2006. MACGT: multi-dimensional automated clustering genotyping tool for analysis of microarray-based mini-sequencing data. Bioinformatics 22:1147-1149.
-
(2006)
Bioinformatics
, vol.22
, pp. 1147-1149
-
-
Walley, D.C.1
Tripp, B.W.2
Song, Y.C.3
Walley, K.R.4
Tebbutt, S.J.5
-
13
-
-
33745728341
-
A quality assessment survey of SNP genotyping laboratories
-
Lahermo, P., U. Liljedahl, G. Alnaes, T. Axelsson, A.J. Brookes, P. Ellonen, P.H. Groop, C. Hallden, et al. 2006. A quality assessment survey of SNP genotyping laboratories. Hum. Mutat. 27:711-714.
-
(2006)
Hum. Mutat
, vol.27
, pp. 711-714
-
-
Lahermo, P.1
Liljedahl, U.2
Alnaes, G.3
Axelsson, T.4
Brookes, A.J.5
Ellonen, P.6
Groop, P.H.7
Hallden, C.8
-
14
-
-
20044387759
-
A genotyping system capable of simultaneously analyzing >1000 single nucleotide polymorphisms in a haploid genome
-
Wang, H.Y., M. Luo, I.V. Tereshchenko, D.M. Frikker, X. Ciu, J.Y. Li, G. Hu, Y. Chu, et al. 2005. A genotyping system capable of simultaneously analyzing >1000 single nucleotide polymorphisms in a haploid genome. Genome Res. 15:276-283.
-
(2005)
Genome Res
, vol.15
, pp. 276-283
-
-
Wang, H.Y.1
Luo, M.2
Tereshchenko, I.V.3
Frikker, D.M.4
Ciu, X.5
Li, J.Y.6
Hu, G.7
Chu, Y.8
-
15
-
-
33646005232
-
Deoxynucleotides can replace dideoxynucleotides in minisequencing by arrayed primer extension
-
Tebbutt, S.J., G.D. Mercer, R. Do, B.W. Tripp, A.W. Wong, and J. Ruan. 2006. Deoxynucleotides can replace dideoxynucleotides in minisequencing by arrayed primer extension. Biotechniques 40:331-338.
-
(2006)
Biotechniques
, vol.40
, pp. 331-338
-
-
Tebbutt, S.J.1
Mercer, G.D.2
Do, R.3
Tripp, B.W.4
Wong, A.W.5
Ruan, J.6
-
16
-
-
0028834086
-
Oligonucleotides with fluorescent dyes at opposite ends provide a quenched probe system useful for detecting PCR product and nucleic acid hybridization
-
Livak, K.J., S.J. Flood, J. Marmaro, W. Giusti, and K. Deetz. 1995. Oligonucleotides with fluorescent dyes at opposite ends provide a quenched probe system useful for detecting PCR product and nucleic acid hybridization. PCR Methods Appl. 4:357-362.
-
(1995)
PCR Methods Appl
, vol.4
, pp. 357-362
-
-
Livak, K.J.1
Flood, S.J.2
Marmaro, J.3
Giusti, W.4
Deetz, K.5
-
17
-
-
42349088372
-
From genetic privacy to open consent
-
Lunshof, J.E., R. Chadwick, D.B. Vorhaus, and G.M. Church. 2008. From genetic privacy to open consent. Nat. Rev. Genet. 9:406-411.
-
(2008)
Nat. Rev. Genet
, vol.9
, pp. 406-411
-
-
Lunshof, J.E.1
Chadwick, R.2
Vorhaus, D.B.3
Church, G.M.4
-
19
-
-
47249117612
-
Development of a single tube 640-plex genotyping method for detection of nucleic acid variations on microarrays
-
Krjutskov, K., R. Andreson, R. Magi, T. Nikopensius, A. Khrunin, E. Mihailov, V. Tammekivi, H. Sork, et al. 2008. Development of a single tube 640-plex genotyping method for detection of nucleic acid variations on microarrays. Nucleic Acids Res. 36:e75.
-
(2008)
Nucleic Acids Res
, vol.36
-
-
Krjutskov, K.1
Andreson, R.2
Magi, R.3
Nikopensius, T.4
Khrunin, A.5
Mihailov, E.6
Tammekivi, V.7
Sork, H.8
-
20
-
-
18644366781
-
Reliable detection of beta-thalassemia and G6PD mutations by a DNA microarray
-
Gemignani, F., C. Perra, S. Landi, F. Canzian, A. Kurg, N. Tonisson, R. Galanello, A. Cao, et al. 2002. Reliable detection of beta-thalassemia and G6PD mutations by a DNA microarray. Clin. Chem. 48:2051-2054.
-
(2002)
Clin. Chem
, vol.48
, pp. 2051-2054
-
-
Gemignani, F.1
Perra, C.2
Landi, S.3
Canzian, F.4
Kurg, A.5
Tonisson, N.6
Galanello, R.7
Cao, A.8
-
21
-
-
0033865806
-
A system for specific, high-throughput genotyping by allele-specific primer extension on microarrays
-
Pastinen, T., M. Raitio, K. Lindroos, P. Tainola, L. Peltonen, and A.C. Syvanen. 2000. A system for specific, high-throughput genotyping by allele-specific primer extension on microarrays. Genome Res. 10:1031-1042.
-
(2000)
Genome Res
, vol.10
, pp. 1031-1042
-
-
Pastinen, T.1
Raitio, M.2
Lindroos, K.3
Tainola, P.4
Peltonen, L.5
Syvanen, A.C.6
|