-
1
-
-
18444369013
-
The structure of haplotype blocks in the human genome
-
Gabriel, S. B., Schaffner, S. F., Nguyen, H., Moore, J. M., Roy, J., Blumenstiel, B. et al. The structure of haplotype blocks in the human genome. Science (New York, NY) 296, 2225-2229 (2002).
-
(2002)
Science (New York, NY)
, vol.296
, pp. 2225-2229
-
-
Gabriel, S.B.1
Schaffner, S.F.2
Nguyen, H.3
Moore, J.M.4
Roy, J.5
Blumenstiel, B.6
-
2
-
-
4344671923
-
Variation of gene-based SNPs and linkage disequilibrium patterns in the human genome
-
Tsunoda, T., Lathrop, G. M., Sekine, A., Yamada, R., Takahashi, A., Ohnishi, Y. et al. Variation of gene-based SNPs and linkage disequilibrium patterns in the human genome. Hum. Mol. Genet. 13, 1623-1632 (2004).
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 1623-1632
-
-
Tsunoda, T.1
Lathrop, G.M.2
Sekine, A.3
Yamada, R.4
Takahashi, A.5
Ohnishi, Y.6
-
3
-
-
0034789532
-
Haplotype tagging for the identification of common disease genes
-
Johnson, G. C., Esposito, L., Barratt, B. J., Smith, A. N., Heward, J., Di Genova, G. et al. Haplotype tagging for the identification of common disease genes. Nat. Genet. 29, 233-237 (2001).
-
(2001)
Nat. Genet.
, vol.29
, pp. 233-237
-
-
Johnson, G.C.1
Esposito, L.2
Barratt, B.J.3
Smith, A.N.4
Heward, J.5
Di Genova, G.6
-
4
-
-
0035837267
-
Linkage disequilibrium in the human genome
-
Reich, D. E., Cargill, M., Bolk, S., Ireland, J., Sabeti, P. C., Richter, D. J. et al. Linkage disequilibrium in the human genome. Nature 411, 199-204 (2001).
-
(2001)
Nature
, vol.411
, pp. 199-204
-
-
Reich, D.E.1
Cargill, M.2
Bolk, S.3
Ireland, J.4
Sabeti, P.C.5
Richter, D.J.6
-
5
-
-
0035895505
-
The sequence of the human genome
-
Venter, J. C., Adams, M. D., Myers, E. W., Li, P. W., Mural, R. J., Sutton, G. G. et al. The sequence of the human genome. Science (New York, NY) 291, 1304-1351 (2001).
-
(2001)
Science (New York, NY)
, vol.291
, pp. 1304-1351
-
-
Venter, J.C.1
Adams, M.D.2
Myers, E.W.3
Li, P.W.4
Mural, R.J.5
Sutton, G.G.6
-
6
-
-
35648976118
-
The diploid genome sequence of an individual human
-
Levy, S., Sutton, G., Ng, P. C., Feuk, L., Halpern, A. L., Walenz, B. P. et al. The diploid genome sequence of an individual human. PLoS Biology 5, e254 (2007).
-
(2007)
PLoS Biology
, vol.5
-
-
Levy, S.1
Sutton, G.2
Ng, P.C.3
Feuk, L.4
Halpern, A.L.5
Walenz, B.P.6
-
7
-
-
0025269067
-
Inference of haplotypes from PCR-amplified samples of diploid populations
-
Clark, A. G. Inference of haplotypes from PCR-amplified samples of diploid populations. Mol. Biol. Evol. 7, 111-122 (1990).
-
(1990)
Mol. Biol. Evol
, vol.7
, pp. 111-122
-
-
Clark, A.G.1
-
8
-
-
0029130796
-
Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population
-
Excoffier, L. & Slatkin, M. Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population. Mol. Biol. Evol. 12, 921-927 (1995).
-
(1995)
Mol. Biol. Evol
, vol.12
, pp. 921-927
-
-
Excoffier, L.1
Slatkin, M.2
-
9
-
-
0035071957
-
A new statistical method for haplotype reconstruction from population data
-
Stephens, M., Smith, N. J. & Donnelly, P. A new statistical method for haplotype reconstruction from population data. Am. J. Hum. Genet. 68, 978-989 (2001).
-
(2001)
Am. J. Hum. Genet.
, vol.68
, pp. 978-989
-
-
Stephens, M.1
Smith, N.J.2
Donnelly, P.3
-
10
-
-
10044232695
-
Algorithms for inferring haplotypes
-
Niu, T. Algorithms for inferring haplotypes. Genet. Epidemiol. 27, 334-347 (2004).
-
(2004)
Genet. Epidemiol
, vol.27
, pp. 334-347
-
-
Niu, T.1
-
11
-
-
0036138183
-
Bayesian haplotype inference for multiple linked single-nucleotide polymorphisms
-
Niu, T., Qin, Z. S., Xu, X. & Liu, J. S. Bayesian haplotype inference for multiple linked single-nucleotide polymorphisms. Am. J. Hum. Genet. 70, 157-169 (2002).
-
(2002)
Am. J. Hum. Genet.
, vol.70
, pp. 157-169
-
-
Niu, T.1
Qin, Z.S.2
Xu, X.3
Liu, J.S.4
-
12
-
-
0037320552
-
Estimation of haplotype frequencies, linkage-disequilibrium measures, and combination of haplotype copies in each pool by use of pooled DNA data
-
Ito, T., Chiku, S., Inoue, E., Tomita, M., Morisaki, T., Morisaki, H. et al. Estimation of haplotype frequencies, linkage-disequilibrium measures, and combination of haplotype copies in each pool by use of pooled DNA data. Am. J. Hum. Genet. 72, 384-398 (2003).
-
(2003)
Am. J. Hum. Genet.
, vol.72
, pp. 384-398
-
-
Ito, T.1
Chiku, S.2
Inoue, E.3
Tomita, M.4
Morisaki, T.5
Morisaki, H.6
-
13
-
-
0036842635
-
Haplotype inference in random population samples
-
Lin, S., Cutler, D. J., Zwick, M. E. & Chakravarti, A. Haplotype inference in random population samples. Am. J. Hum. Genet. 71, 1129-1137 (2002).
-
(2002)
Am. J. Hum. Genet.
, vol.71
, pp. 1129-1137
-
-
Lin, S.1
Cutler, D.J.2
Zwick, M.E.3
Chakravarti, A.4
-
14
-
-
62649155943
-
A unified approach to genotype imputation and haplotype-phase inference for large data sets of trios and unrelated individuals
-
Browning, B. L. & Browning, S. R. A unified approach to genotype imputation and haplotype-phase inference for large data sets of trios and unrelated individuals. Am. J. Hum. Genet. 84, 210-223 (2009).
-
(2009)
Am. J. Hum. Genet.
, vol.84
, pp. 210-223
-
-
Browning, B.L.1
Browning, S.R.2
-
15
-
-
35348817330
-
Rapid and accurate haplotype phasing and missingdata inference for whole-genome association studies by use of localized haplotype clustering
-
Browning, S. R. & Browning, B. L. Rapid and accurate haplotype phasing and missingdata inference for whole-genome association studies by use of localized haplotype clustering. Am. J. Hum. Genet. 81, 1084-1097 (2007).
-
(2007)
Am. J. Hum. Genet.
, vol.81
, pp. 1084-1097
-
-
Browning, S.R.1
Browning, B.L.2
-
16
-
-
4444383439
-
Notes on the maximum likelihood estimation of haplotype frequencies
-
Mano, S., Yasuda, N., Katoh, T., Tounai, K., Inoko, H., Imanishi, T. et al. Notes on the maximum likelihood estimation of haplotype frequencies. Ann. Hum. Genet. 68 (Part 3), 257-264 (2004).
-
(2004)
Ann. Hum. Genet.
, vol.68
, Issue.3 PART
, pp. 257-264
-
-
Mano, S.1
Yasuda, N.2
Katoh, T.3
Tounai, K.4
Inoko, H.5
Imanishi, T.6
-
17
-
-
0034727107
-
An SNP map of the human genome generated by reduced representation shotgun sequencing
-
Altshuler, D., Pollara, V. J., Cowles, C. R., Van Etten, W. J., Baldwin, J., Linton, L. et al. An SNP map of the human genome generated by reduced representation shotgun sequencing. Nature 407, 513-516 (2000).
-
(2000)
Nature
, vol.407
, pp. 513-516
-
-
Altshuler, D.1
Pollara, V.J.2
Cowles, C.R.3
Van Etten, W.J.4
Baldwin, J.5
Linton, L.6
-
18
-
-
0032876978
-
DbSNP-database for single nucleotide polymorphisms and other classes of minor genetic variation
-
Sherry, S. T., Ward, M. & Sirotkin, K. dbSNP-database for single nucleotide polymorphisms and other classes of minor genetic variation. Genome Res. 9, 677-679 (1999).
-
(1999)
Genome Res.
, vol.9
, pp. 677-679
-
-
Sherry, S.T.1
Ward, M.2
Sirotkin, K.3
-
19
-
-
0036956227
-
Gene-based SNP discovery as part of the Japanese Millennium Genome Project: Identification of 190 562 genetic variations in the human genome. Single-nucleotide polymorphism
-
Haga, H., Yamada, R., Ohnishi, Y., Nakamura, Y. & Tanaka, T. Gene-based SNP discovery as part of the Japanese Millennium Genome Project: identification of 190 562 genetic variations in the human genome. Single-nucleotide polymorphism. J. Hum. Genet. 47, 605-610 (2002).
-
(2002)
J. Hum. Genet.
, vol.47
, pp. 605-610
-
-
Haga, H.1
Yamada, R.2
Ohnishi, Y.3
Nakamura, Y.4
Tanaka, T.5
-
20
-
-
0036087166
-
JSNP: A database of common gene variations in the Japanese population
-
Hirakawa, M., Tanaka, T., Hashimoto, Y., Kuroda, M., Takagi, T. & Nakamura, Y. JSNP: a database of common gene variations in the Japanese population. Nucleic Acids Res 30, 158-162 (2002).
-
(2002)
Nucleic Acids Res.
, vol.30
, pp. 158-162
-
-
Hirakawa, M.1
Tanaka, T.2
Hashimoto, Y.3
Kuroda, M.4
Takagi, T.5
Nakamura, Y.6
-
21
-
-
18744407845
-
Functional SNPs in the lymphotoxin-alpha gene that are associated with susceptibility to myocardial infarction
-
Ozaki, K., Ohnishi, Y., Iida, A., Sekine, A., Yamada, R., Tsunoda, T. et al. Functional SNPs in the lymphotoxin-alpha gene that are associated with susceptibility to myocardial infarction. Nat. Genet. 32, 650-654 (2002).
-
(2002)
Nat. Genet.
, vol.32
, pp. 650-654
-
-
Ozaki, K.1
Ohnishi, Y.2
Iida, A.3
Sekine, A.4
Yamada, R.5
Tsunoda, T.6
-
22
-
-
0042667153
-
Functional haplotypes of PADI4, encoding citrullinating enzyme peptidylarginine deiminase 4, are associated with rheumatoid arthritis
-
Suzuki, A., Yamada, R., Chang, X., Tokuhiro, S., Sawada, T., Suzuki, M. et al. Functional haplotypes of PADI4, encoding citrullinating enzyme peptidylarginine deiminase 4, are associated with rheumatoid arthritis. Nat. Genet. 34, 395-402 (2003).
-
(2003)
Nat. Genet.
, vol.34
, pp. 395-402
-
-
Suzuki, A.1
Yamada, R.2
Chang, X.3
Tokuhiro, S.4
Sawada, T.5
Suzuki, M.6
-
23
-
-
79959524146
-
A haplotype map of the human genome
-
Altshuler, D. A haplotype map of the human genome. Nature 437, 1299-1320 (2005).
-
(2005)
Nature
, vol.437
, pp. 1299-1320
-
-
Altshuler, D.1
-
24
-
-
35348983887
-
A second generation human haplotype map of over 3.1 million SNPs
-
Frazer, K. A., Ballinger, D. G., Cox, D. R., Hinds, D. A., Stuve, L. L., Gibbs, R. A. et al. A second generation human haplotype map of over 3.1 million SNPs. Nature 449, 851-861 (2007).
-
(2007)
Nature
, vol.449
, pp. 851-861
-
-
Frazer, K.A.1
Ballinger, D.G.2
Cox, D.R.3
Hinds, D.A.4
Stuve, L.L.5
Gibbs, R.A.6
-
25
-
-
84969213492
-
Genome-wide association study of 14 000 cases of seven common diseases and 3000 shared controls
-
Consortium TWTCC. Genome-wide association study of 14 000 cases of seven common diseases and 3000 shared controls. Nature 447, 661-678 (2007).
-
(2007)
Nature
, vol.447
, pp. 661-678
-
-
Consortium, T.W.T.C.C.1
-
26
-
-
33344458848
-
A comparison of phasing algorithms for trios and unrelated individuals
-
Marchini, J., Cutler, D., Patterson, N., Stephens, M., Eskin, E., Halperin, E. et al. A comparison of phasing algorithms for trios and unrelated individuals. Am. J. Hum. Genet. 78, 437-450 (2006).
-
(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
-
27
-
-
27544516082
-
Genome-wide definitive haplotypes determined using a collection of complete hydatidiform moles
-
Kukita, Y., Miyatake, K., Stokowski, R., Hinds, D., Higasa, K., Wake, N. et al. Genome-wide definitive haplotypes determined using a collection of complete hydatidiform moles. Genome Res. 15, 1511-1518 (2005).
-
(2005)
Genome Res.
, vol.15
, pp. 1511-1518
-
-
Kukita, Y.1
Miyatake, K.2
Stokowski, R.3
Hinds, D.4
Higasa, K.5
Wake, N.6
-
28
-
-
50949106932
-
Runs of homozygosity in European populations
-
McQuillan, R., Leutenegger, A L., Abdel-Rahman, R., Franklin, C S., Pericic, M., Barac-Lauc, L. et al. Runs of homozygosity in European populations. Am. J. Hum. Genet. 83, 359-372 (2008).
-
(2008)
Am. J. Hum. Genet.
, vol.83
, pp. 359-372
-
-
McQuillan, R.1
Leutenegger, A.L.2
Abdel-Rahman, R.3
Franklin, C.S.4
Pericic, M.5
Barac-Lauc, L.6
-
29
-
-
50449089222
-
Detection of sharing by descent, long-range phasing and haplotype imputation
-
Kong, A., Masson, G., Frigge, M L., Gylfason, A., Zusmanovich, P., Thorleifsson, G. et al. Detection of sharing by descent, long-range phasing and haplotype imputation. Nat. Genet. 40, 1068-1075 (2008).
-
(2008)
Nat. Genet.
, vol.40
, pp. 1068-1075
-
-
Kong, A.1
Masson, G.2
Frigge, M.L.3
Gylfason, A.4
Zusmanovich, P.5
Thorleifsson, G.6
-
30
-
-
67849083083
-
Homozygosity mapper-an interactive approach to homozygosity mapping
-
Web Server issue
-
Seelow, D., Schuelke, M., Hildebrandt, F. & Nurnberg, P. Homozygosity Mapper-an interactive approach to homozygosity mapping. Nucleic Acids Res 37 (Web Server issue), W593-W599 (2009).
-
(2009)
Nucleic Acids Res.
, vol.37
-
-
Seelow, D.1
Schuelke, M.2
Hildebrandt, F.3
Nurnberg, P.4
-
31
-
-
38049164192
-
Runs of homozygosity reveal highly penetrant recessive loci in schizophrenia
-
Lencz, T., Lambert, C., De Rosse, P., Burdick, K E., Morgan, T V., Kane, J M. et al. Runs of homozygosity reveal highly penetrant recessive loci in schizophrenia. Proc. Natl Acad. Sci. USA 104, 19942-19947 (2007).
-
(2007)
Proc. Natl. Acad. Sci. USA
, vol.104
, pp. 19942-19947
-
-
Lencz, T.1
Lambert, C.2
De Rosse, P.3
Burdick, K.E.4
Morgan, T.V.5
Kane, J.M.6
-
32
-
-
68349107942
-
Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders
-
Thiadens, A A., den Hollander, A I., Roosing, S., Nabuurs, S B., Zekveld-Vroon, R C., Collin, R W. et al. Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. Am. J. Hum. Genet. 85, 240-247 (2009).
-
(2009)
Am. J. Hum. Genet.
, vol.85
, pp. 240-247
-
-
Thiadens, A.A.1
Den Hollander, A.I.2
Roosing, S.3
Nabuurs, S.B.4
Zekveld-Vroon, R.C.5
Collin, R.W.6
-
34
-
-
33846060603
-
D-HaploDB: A database of definitive haplotypes determined by genotyping complete hydatidiform mole samples
-
Database issue
-
Higasa, K., Miyatake, K., Kukita, Y., Tahira, T. & Hayashi, K. D-HaploDB: a database of definitive haplotypes determined by genotyping complete hydatidiform mole samples. Nucleic Acids Res. 35 (Database issue), D685-D689 (2007).
-
(2007)
Nucleic Acids Res.
, vol.35
-
-
Higasa, K.1
Miyatake, K.2
Kukita, Y.3
Tahira, T.4
Hayashi, K.5
-
35
-
-
0038315436
-
Entropy as a measure for linkage disequilibrium over multilocus haplotype blocks
-
Nothnagel, M., Furst, R. & Rohde, K. Entropy as a measure for linkage disequilibrium over multilocus haplotype blocks. Hum. Hered. 54, 186-198 (2002).
-
(2002)
Hum. Hered
, vol.54
, pp. 186-198
-
-
Nothnagel, M.1
Furst, R.2
Rohde, K.3
-
36
-
-
67149138099
-
Evaluation of haplotype inference using definitive haplotype data obtained from complete hydatidiform moles, and its significance for the analyses of positively selected regions
-
Higasa, K., Kukita, Y., Kato, K., Wake, N., Tahira, T. & Hayashi, K. Evaluation of haplotype inference using definitive haplotype data obtained from complete hydatidiform moles, and its significance for the analyses of positively selected regions. PLoS Genet. 5, e1000468 (2009).
-
(2009)
PLoS Genet.
, vol.5
-
-
Higasa, K.1
Kukita, Y.2
Kato, K.3
Wake, N.4
Tahira, T.5
Hayashi, K.6
-
37
-
-
50249108915
-
New correction algorithms for multiple comparisons in case-control multilocus association studies based on haplotypes and diplotype configurations
-
Misawa, K., Fujii, S., Yamazaki, T., Takahashi, A., Takasaki, J., Yanagisawa, M. et al. New correction algorithms for multiple comparisons in case-control multilocus association studies based on haplotypes and diplotype configurations. J. Hum. Genet. 53, 789-801 (2008).
-
(2008)
J. Hum. Genet.
, vol.53
, pp. 789-801
-
-
Misawa, K.1
Fujii, S.2
Yamazaki, T.3
Takahashi, A.4
Takasaki, J.5
Yanagisawa, M.6
-
38
-
-
61349137526
-
Genome-wide haplotype association study identifies the SLC22A3-LPAL2-LPA gene cluster as a risk locus for coronary artery disease
-
Tregouet, D A., Konig, I R., Erdmann, J., Munteanu, A., Braund, P S., Hall, A S. et al. Genome-wide haplotype association study identifies the SLC22A3-LPAL2-LPA gene cluster as a risk locus for coronary artery disease. Nat. Genet. 41, 283-285 (2009).
-
(2009)
Nat. Genet.
, vol.41
, pp. 283-285
-
-
Tregouet, D.A.1
Konig, I.R.2
Erdmann, J.3
Munteanu, A.4
Braund, P.S.5
Hall, A.S.6
-
39
-
-
32444441330
-
Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels
-
Cohen, J C., Pertsemlidis, A., Fahmi, S., Esmail, S., Vega, G L., Grundy, S M. et al. Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels. Proc. Natl Acad. Sci. USA 103, 1810-1815 (2006).
-
(2006)
Proc. Natl. Acad. Sci. USA
, vol.103
, pp. 1810-1815
-
-
Cohen, J.C.1
Pertsemlidis, A.2
Fahmi, S.3
Esmail, S.4
Vega, G.L.5
Grundy, S.M.6
-
40
-
-
0034969437
-
Are rare variants responsible for susceptibility to complex diseases?
-
Pritchard, J K. Are rare variants responsible for susceptibility to complex diseases? Am. J. Hum. Genet. 69, 124-137 (2001).
-
(2001)
Am. J. Hum. Genet.
, vol.69
, pp. 124-137
-
-
Pritchard, J.K.1
|