-
1
-
-
0242691208
-
A comparison of bayesian methods for haplotype reconstruction from population genotype data
-
Stephens,M. and Donnelly,P. (2003) A comparison of bayesian methods for haplotype reconstruction from population genotype data. Am. J. Hum. Genet., 73, 1162-1169.
-
(2003)
Am. J. Hum. Genet
, vol.73
, pp. 1162-1169
-
-
Stephens, M.1
Donnelly, P.2
-
2
-
-
33344458848
-
A comparison of phasing algorithms for trios and unrelated individuals
-
Marchini,J., Cutler,D., Patterson,N., Stephens,M., Eskin,E., Halperin,E., Lin,S., Qin,Z.S., Munro,H.M. et al. (2006) A comparison of phasing algorithms for trios and unrelated individuals. Am. J. Hum. Genet., 78, 437-450.
-
(2006)
Am. J. Hum. Genet
, vol.78
, pp. 437-450
-
-
Marchini, J.1
Cutler, D.2
Patterson, N.3
Stephens, M.4
Eskin, E.5
Halperin, E.6
Lin, S.7
Qin, Z.S.8
Munro, H.M.9
-
3
-
-
79959524146
-
A haplotype map of the human genome
-
International HapMap Consortium
-
International HapMap Consortium. (2005) A haplotype map of the human genome. Nature, 437, 1299-1320.
-
(2005)
Nature
, vol.437
, pp. 1299-1320
-
-
-
4
-
-
11144339384
-
Long-range control of gene expression: Emerging mechanisms and disruption in disease
-
Kleinjan,D.A. and van Heyningen,V. (2005) Long-range control of gene expression: Emerging mechanisms and disruption in disease. Am. J. Hum. Genet., 76, 8-32.
-
(2005)
Am. J. Hum. Genet
, vol.76
, pp. 8-32
-
-
Kleinjan, D.A.1
van Heyningen, V.2
-
5
-
-
0036842635
-
Haplotype inference in random population samples
-
Lin,S., Cutler,D.J., Zwick,M.E. and Chakravarti,A. (2002) Haplotype inference in random population samples. Am. J. Hum. Genet., 71 1129-1137.
-
(2002)
Am. J. Hum. Genet
, vol.71
, pp. 1129-1137
-
-
Lin, S.1
Cutler, D.J.2
Zwick, M.E.3
Chakravarti, A.4
-
6
-
-
33744514622
-
Assaying chromosomal inversions by single-molecule haplotyping
-
Turner,D.J., Shendure,J., Porreca,G., Church,G., Green,P., Tyler-Smith,C. and Hurles,M.E. (2006) Assaying chromosomal inversions by single-molecule haplotyping. Nat. Methods, 3, 439-445.
-
(2006)
Nat. Methods
, vol.3
, pp. 439-445
-
-
Turner, D.J.1
Shendure, J.2
Porreca, G.3
Church, G.4
Green, P.5
Tyler-Smith, C.6
Hurles, M.E.7
-
7
-
-
0025744797
-
Direct haplotype determination by double ARMS: Specificity, sensitivity and genetic applications
-
Lo,Y.M., Patel,P., Newton,C.R., Markham,A.F., Fleming,K.A. and Wainscoat,J.S. (1991) Direct haplotype determination by double ARMS: specificity, sensitivity and genetic applications. Nucleic Acids Res. 19, 3561-3567.
-
(1991)
Nucleic Acids Res
, vol.19
, pp. 3561-3567
-
-
Lo, Y.M.1
Patel, P.2
Newton, C.R.3
Markham, A.F.4
Fleming, K.A.5
Wainscoat, J.S.6
-
8
-
-
0036216741
-
Molecular haplotyping of genomic DNA for multiple single-nucleotide polymorphisms located kilobases apart using long-range polymerase chain reaction and intramolecular ligation
-
McDonald,O.G., Krynetski,E.Y. and Evans,W.E. (2002) Molecular haplotyping of genomic DNA for multiple single-nucleotide polymorphisms located kilobases apart using long-range polymerase chain reaction and intramolecular ligation. Pharmacogenetics, 12, 93-99.
-
(2002)
Pharmacogenetics
, vol.12
, pp. 93-99
-
-
McDonald, O.G.1
Krynetski, E.Y.2
Evans, W.E.3
-
9
-
-
0029803735
-
Molecular haplotyping of genetic markers 10kb apart by allele-specific long-range PCR
-
Michalatos-Beloin,S., Tishkoff,S.A., Bentley,K.L., Kidd,K.K. and Ruano,G. (1996) Molecular haplotyping of genetic markers 10kb apart by allele-specific long-range PCR. Nucleic Acids Res., 24, 4841-4843.
-
(1996)
Nucleic Acids Res
, vol.24
, pp. 4841-4843
-
-
Michalatos-Beloin, S.1
Tishkoff, S.A.2
Bentley, K.L.3
Kidd, K.K.4
Ruano, G.5
-
10
-
-
0024368864
-
Precise gene fusion by PCR
-
Yon,J. and Fried,M. (1989) Precise gene fusion by PCR. Nucleic Acids Res., 17, 4895.
-
(1989)
Nucleic Acids Res
, vol.17
, pp. 4895
-
-
Yon, J.1
Fried, M.2
-
11
-
-
0042307371
-
Transforming single DNA molecules into fluorescent magnetic particles for detection and enumeration of genetic variations
-
Dressman,D., Yan,H., Traverso,G., Kinzler,K.W. and Vogelstein,B. (2003) Transforming single DNA molecules into fluorescent magnetic particles for detection and enumeration of genetic variations. Proc. Natl Acad. Sci. USA, 100, 8817-8822.
-
(2003)
Proc. Natl Acad. Sci. USA
, vol.100
, pp. 8817-8822
-
-
Dressman, D.1
Yan, H.2
Traverso, G.3
Kinzler, K.W.4
Vogelstein, B.5
-
12
-
-
0031854986
-
Man-made cell-like compartments for molecular evolution
-
Tawfik,D.S. and Griffiths,A.D. (1998) Man-made cell-like compartments for molecular evolution. Nat. Biotechnol., 16, 652-656.
-
(1998)
Nat. Biotechnol
, vol.16
, pp. 652-656
-
-
Tawfik, D.S.1
Griffiths, A.D.2
-
13
-
-
24044455869
-
Genome sequencing in microfabricated high-density picolitre reactors
-
Margulies,M., Egholm,M., Altman,W.E., Attiya,S., Bader,J.S., Bemben,L.A., Berka,J., Braverman,M.S., Chen,Y.J. et al. (2005) Genome sequencing in microfabricated high-density picolitre reactors. Nature, 437, 376-380.
-
(2005)
Nature
, vol.437
, pp. 376-380
-
-
Margulies, M.1
Egholm, M.2
Altman, W.E.3
Attiya, S.4
Bader, J.S.5
Bemben, L.A.6
Berka, J.7
Braverman, M.S.8
Chen, Y.J.9
-
14
-
-
0026056970
-
Genetic disease detection and DNA amplification using cloned thermostable ligase
-
Barany,F. (1991) Genetic disease detection and DNA amplification using cloned thermostable ligase. Proc. Natl Acad. Sci. USA, 88, 189-193.
-
(1991)
Proc. Natl Acad. Sci. USA
, vol.88
, pp. 189-193
-
-
Barany, F.1
-
15
-
-
2442667212
-
Highly parallel SNP genotyping
-
Fan,J.B., Oliphant,A., Shen,R., Kermani,B.G., Garcia,F., Gunderson,K.L., Hansen,M., Steemers,F., Butler,S.L. et al. (2003) Highly parallel SNP genotyping. Cold Spring Harb. Symp. Quant. Biol., 68, 69-78.
-
(2003)
Cold Spring Harb. Symp. Quant. Biol
, vol.68
, pp. 69-78
-
-
Fan, J.B.1
Oliphant, A.2
Shen, R.3
Kermani, B.G.4
Garcia, F.5
Gunderson, K.L.6
Hansen, M.7
Steemers, F.8
Butler, S.L.9
-
16
-
-
33645741145
-
The SNPlex genotyping system: A flexible and scalable platform for SNP genotyping
-
Tobler,A.R., Short,S., Andersen,M.R., Paner,T.M., Briggs,J.C., Lambert,S.M., Wu,P.P., Wang,Y., Spoonde,A.Y. et al. (2005) The SNPlex genotyping system: A flexible and scalable platform for SNP genotyping. J. Biomol. Tech., 16, 398-406.
-
(2005)
J. Biomol. Tech
, vol.16
, pp. 398-406
-
-
Tobler, A.R.1
Short, S.2
Andersen, M.R.3
Paner, T.M.4
Briggs, J.C.5
Lambert, S.M.6
Wu, P.P.7
Wang, Y.8
Spoonde, A.Y.9
-
17
-
-
22844451617
-
Fine-scale structural variation of the human genome
-
Tuzun,E., Sharp,A.J., Bailey,J.A., Kaul,R., Morrison,V.A., Pertz,L.M., Haugen,E., Hayden,H., Albertson,D. et al. (2005) Fine-scale structural variation of the human genome. Nat. Genet., 37, 727-732.
-
(2005)
Nat. Genet
, vol.37
, pp. 727-732
-
-
Tuzun, E.1
Sharp, A.J.2
Bailey, J.A.3
Kaul, R.4
Morrison, V.A.5
Pertz, L.M.6
Haugen, E.7
Hayden, H.8
Albertson, D.9
-
18
-
-
0032529667
-
Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in hemophilia A
-
Liu,Q., Nozari,G. and Sommer,S.S. (1998) Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in hemophilia A. Blood, 92, 1458-1459.
-
(1998)
Blood
, vol.92
, pp. 1458-1459
-
-
Liu, Q.1
Nozari, G.2
Sommer, S.S.3
-
19
-
-
0031005848
-
Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats
-
Small,K., Iber,J. and Warren,S.T. (1997) Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats. Nat. Genet., 16, 96-99.
-
(1997)
Nat. Genet
, vol.16
, pp. 96-99
-
-
Small, K.1
Iber, J.2
Warren, S.T.3
-
20
-
-
13944278863
-
A common inversion under selection in Europeans
-
Stefansson,H., Helgason,A., Thorleifsson,G., Steinthorsdottir,V., Masson,G., Barnard,J., Baker,A., Jonasdottir,A., Ingason,A. et al. (2005) A common inversion under selection in Europeans. Nat. Genet. 37, 129-137.
-
(2005)
Nat. Genet
, vol.37
, pp. 129-137
-
-
Stefansson, H.1
Helgason, A.2
Thorleifsson, G.3
Steinthorsdottir, V.4
Masson, G.5
Barnard, J.6
Baker, A.7
Jonasdottir, A.8
Ingason, A.9
-
21
-
-
0036468807
-
Genome architecture, rearrangements and genomic disorders
-
Stankiewicz,P. and Lupski,J.R. (2002) Genome architecture, rearrangements and genomic disorders. Trends Genet., 18, 74-82.
-
(2002)
Trends Genet
, vol.18
, pp. 74-82
-
-
Stankiewicz, P.1
Lupski, J.R.2
-
22
-
-
0032585539
-
A selective difference between human Y-chromosomal DNA haplotypes
-
Jobling,M.A., Williams,G.A., Schiebel,G.A., Pandya,G.A., McElreavey,G.A., Salas,G.A., Rappold,G.A., Affara,N.A. and Tyler-Smith,C. (1998) A selective difference between human Y-chromosomal DNA haplotypes. Curr. Biol., 8, 1391-1394.
-
(1998)
Curr. Biol
, vol.8
, pp. 1391-1394
-
-
Jobling, M.A.1
Williams, G.A.2
Schiebel, G.A.3
Pandya, G.A.4
McElreavey, G.A.5
Salas, G.A.6
Rappold, G.A.7
Affara, N.A.8
Tyler-Smith, C.9
-
23
-
-
0035836707
-
Directed evolution of polymerase function by compartmentalized self-replication
-
Ghadessy,F.J., Ong,J.L. and Holliger,P. (2001) Directed evolution of polymerase function by compartmentalized self-replication. Proc. Natl Acad. Sci. USA, 98, 4552-4557.
-
(2001)
Proc. Natl Acad. Sci. USA
, vol.98
, pp. 4552-4557
-
-
Ghadessy, F.J.1
Ong, J.L.2
Holliger, P.3
-
24
-
-
33646368404
-
A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus
-
Graham,R.R., Kozyrev,S.V., Baechler,E.C., Reddy,M.V., Plenge,R.M., Bauer,J.W., Ortmann,W.A., Koeuth,T., Gonzalez Escribano,M.F. et al. (2006) A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus. Nat. Genet., 38, 550-555.
-
(2006)
Nat. Genet
, vol.38
, pp. 550-555
-
-
Graham, R.R.1
Kozyrev, S.V.2
Baechler, E.C.3
Reddy, M.V.4
Plenge, R.M.5
Bauer, J.W.6
Ortmann, W.A.7
Koeuth, T.8
Gonzalez Escribano, M.F.9
-
25
-
-
13844292408
-
Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus
-
Sigurdsson,S., Nordmark,G., Goring,H.H., Lindroos,K., Wiman,A.C., Sturfelt,G., Jonsen,A., Rantapaa-Dahlqvist,S., Moller,B. et al. (2005) Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus. Am. J. Hum. Genet., 76, 528-537.
-
(2005)
Am. J. Hum. Genet
, vol.76
, pp. 528-537
-
-
Sigurdsson, S.1
Nordmark, G.2
Goring, H.H.3
Lindroos, K.4
Wiman, A.C.5
Sturfelt, G.6
Jonsen, A.7
Rantapaa-Dahlqvist, S.8
Moller, B.9
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