-
1
-
-
77950657866
-
Accurate detection and genotyping of SNPs utilizing population sequencing data
-
Bansal V, Harismendy O, Tewhey R, Murray SS, Schork NJ, Topol EJ, Frazer KA. 2010a. Accurate detection and genotyping of SNPs utilizing population sequencing data. Genome Res 20:537-545.
-
(2010)
Genome Res
, vol.20
, pp. 537-545
-
-
Bansal, V.1
Harismendy, O.2
Tewhey, R.3
Murray, S.S.4
Schork, N.J.5
Topol, E.J.6
Frazer, K.A.7
-
2
-
-
77958102016
-
Statistical analysis strategies for association studies involving rare variants
-
Bansal V, Libiger O, Torkamani A, Schork NJ. 2010b. Statistical analysis strategies for association studies involving rare variants. Nat Rev Genet 11:773-785.
-
(2010)
Nat Rev Genet
, vol.11
, pp. 773-785
-
-
Bansal, V.1
Libiger, O.2
Torkamani, A.3
Schork, N.J.4
-
3
-
-
84872410521
-
Detecting rare variant effects using extreme phenotype sampling in sequencing association studies
-
Barnett IJ, Lee S, and Lin X. 2013. Detecting rare variant effects using extreme phenotype sampling in sequencing association studies. Genet Epidemiol 37:142-151.
-
(2013)
Genet Epidemiol
, vol.37
, pp. 142-151
-
-
Barnett, I.J.1
Lee, S.2
Lin, X.3
-
4
-
-
64449088698
-
Continuous base identification for single-molecule nanopore DNA sequencing
-
Clarke J, Wu HC, Jayasinghe L, Patel A, Reid S, Bayley H. 2009. Continuous base identification for single-molecule nanopore DNA sequencing. Nat Nanotechnol 4:265-270.
-
(2009)
Nat Nanotechnol
, vol.4
, pp. 265-270
-
-
Clarke, J.1
Wu, H.C.2
Jayasinghe, L.3
Patel, A.4
Reid, S.5
Bayley, H.6
-
5
-
-
0001008882
-
The distribution of a linear combination of chi-square random variables
-
Davies R. 1980. The distribution of a linear combination of chi-square random variables. J R Stat Soc Ser C Appl Stat 29:323-333.
-
(1980)
J R Stat Soc Ser C Appl Stat
, vol.29
, pp. 323-333
-
-
Davies, R.1
-
7
-
-
73149087027
-
Computing the distribution of quadratic forms: further comparisons between the Liu-Tang-Zhang approximation and exact methods
-
Duchesne P, Lafaye De Micheaux P. 2010. Computing the distribution of quadratic forms: further comparisons between the Liu-Tang-Zhang approximation and exact methods. Comput Stat Data Anal 54:858-862.
-
(2010)
Comput Stat Data Anal
, vol.54
, pp. 858-862
-
-
Duchesne, P.1
Lafaye De Micheaux, P.2
-
9
-
-
83455181653
-
Penalized functional regression
-
Goldsmith J, Bobb J, Crainiceanu CM, Caffo B, Reich D. 2011. Penalized functional regression. J Comput Graph Stat 20:830-851.
-
(2011)
J Comput Graph Stat
, vol.20
, pp. 830-851
-
-
Goldsmith, J.1
Bobb, J.2
Crainiceanu, C.M.3
Caffo, B.4
Reich, D.5
-
10
-
-
38749145596
-
Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms
-
Gorlov IP, Gorlova OY, Sunyaev SR, Spitz MR, Amos CI. 2008. Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms. Am J Hum Genet 82:100-112.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 100-112
-
-
Gorlov, I.P.1
Gorlova, O.Y.2
Sunyaev, S.R.3
Spitz, M.R.4
Amos, C.I.5
-
11
-
-
77951028197
-
A data-adaptive sum test for disease association with multiple common or rare variants
-
Han F, Pan W. 2010. A data-adaptive sum test for disease association with multiple common or rare variants. Hum Hered 70:42-54.
-
(2010)
Hum Hered
, vol.70
, pp. 42-54
-
-
Han, F.1
Pan, W.2
-
12
-
-
84870657482
-
-
Springer, New York, Heidelberg, Dordrecht, London.
-
Horváth L, Kokoszka P. 2012. Inference for Functional Data With Applications. Springer, New York, Heidelberg, Dordrecht, London.
-
(2012)
Inference for Functional Data With Applications
-
-
Horváth, L.1
Kokoszka, P.2
-
13
-
-
84861618864
-
Exome sequencing and the genetic basis of complex traits
-
others
-
Kiezun A, Garimella K, Do R, Stitziel NO, Neale BM, McLaren PJ, Gupta N, Sklar P, Sullivan PF, Moran JL and others,. 2012. Exome sequencing and the genetic basis of complex traits. Nat Genet 44:623-630.
-
(2012)
Nat Genet
, vol.44
, pp. 623-630
-
-
Kiezun, A.1
Garimella, K.2
Do, R.3
Stitziel, N.O.4
Neale, B.M.5
McLaren, P.J.6
Gupta, N.7
Sklar, P.8
Sullivan, P.F.9
Moran, J.L.10
-
14
-
-
40749104728
-
A powerful and flexible multilocus association test for quantitative traits
-
Kwee LC, Liu D, Lin X, Ghosh D, Epstein MP. 2008. A powerful and flexible multilocus association test for quantitative traits. Am J Hum Genet 82:386-397.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 386-397
-
-
Kwee, L.C.1
Liu, D.2
Lin, X.3
Ghosh, D.4
Epstein, M.P.5
-
15
-
-
84864942403
-
Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies
-
NHLBI GO Exome Sequencing ProjectESP Lung Project Team
-
Lee S, Emond MJ, Bamshad MJ, Barnes KC, Rieder MJ, Nickerson DA, NHLBI GO Exome Sequencing ProjectESP Lung Project Team, Christiani DC, Wurfel MM, and Lin X. 2012a. Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies. Am J Hum Genet 91:224-237.
-
(2012)
Am J Hum Genet
, vol.91
, pp. 224-237
-
-
Lee, S.1
Emond, M.J.2
Bamshad, M.J.3
Barnes, K.C.4
Rieder, M.J.5
Nickerson, D.A.6
Christiani, D.C.7
Wurfel, M.M.8
Lin, X.9
-
16
-
-
84864953892
-
Optimal tests for rare variant effects in sequencing association studies
-
Lee S, Wu MC, Lin X. 2012b. Optimal tests for rare variant effects in sequencing association studies. Biostatistics 13:762-775.
-
(2012)
Biostatistics
, vol.13
, pp. 762-775
-
-
Lee, S.1
Wu, M.C.2
Lin, X.3
-
17
-
-
50949095168
-
Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data
-
Li B, Leal SM. 2008. Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data. Am J Hum Genet 83:311-321.
-
(2008)
Am J Hum Genet
, vol.83
, pp. 311-321
-
-
Li, B.1
Leal, S.M.2
-
18
-
-
0000072057
-
Variance component testing in generalised linear models with random effects
-
Lin X. 1997. Variance component testing in generalised linear models with random effects. Biometrika 84:309-326.
-
(1997)
Biometrika
, vol.84
, pp. 309-326
-
-
Lin, X.1
-
19
-
-
66249144684
-
Power comparisons between similarity-based multilocus association methods, logistic regression, and score tests for haplotypes
-
Lin WY, Schaid DJ. 2009. Power comparisons between similarity-based multilocus association methods, logistic regression, and score tests for haplotypes. Genet Epidemiol 33:183-197.
-
(2009)
Genet Epidemiol
, vol.33
, pp. 183-197
-
-
Lin, W.Y.1
Schaid, D.J.2
-
20
-
-
80052731371
-
A general framework for detecting disease associations with rare variants in sequencing studies
-
Lin DY, Tang ZZ. 2011. A general framework for detecting disease associations with rare variants in sequencing studies. Am J Hum Genet 89:354-367.
-
(2011)
Am J Hum Genet
, vol.89
, pp. 354-367
-
-
Lin, D.Y.1
Tang, Z.Z.2
-
21
-
-
48249142391
-
Estimation and testing for the effect of a genetic pathway on a disease outcome using logistic kernel machine regression via logistic mixed models
-
doi: 10.1186/1471-2105-9-292.
-
Liu D, Ghosh D, Lin X. 2008. Estimation and testing for the effect of a genetic pathway on a disease outcome using logistic kernel machine regression via logistic mixed models. BMC Bioinformatics 9:292. doi: 10.1186/1471-2105-9-292.
-
(2008)
BMC Bioinformatics
, vol.9
, pp. 292
-
-
Liu, D.1
Ghosh, D.2
Lin, X.3
-
22
-
-
36749013671
-
Semiparametric regression of multidimensional genetic pathway data: least-squares kernel machines and linear mixed models
-
Liu D, Lin X, Ghosh D. 2007. Semiparametric regression of multidimensional genetic pathway data: least-squares kernel machines and linear mixed models. Biometrics 63:1079-1088.
-
(2007)
Biometrics
, vol.63
, pp. 1079-1088
-
-
Liu, D.1
Lin, X.2
Ghosh, D.3
-
23
-
-
58549103276
-
A new chi-square approximation to the distribution of non-negative definite quadratic forms in non-central normal variables
-
Liu H, Tang Y, Zhang H. 2009. A new chi-square approximation to the distribution of non-negative definite quadratic forms in non-central normal variables. Comput Stat Data Anal 53:853-856.
-
(2009)
Comput Stat Data Anal
, vol.53
, pp. 853-856
-
-
Liu, H.1
Tang, Y.2
Zhang, H.3
-
24
-
-
79959865244
-
Association studies for next-generation sequencing
-
Luo L, Boerwinkle E, Xiong M. 2011. Association studies for next-generation sequencing. Genome Res 21:1099-1108.
-
(2011)
Genome Res
, vol.21
, pp. 1099-1108
-
-
Luo, L.1
Boerwinkle, E.2
Xiong, M.3
-
25
-
-
84866342705
-
Quantitative trait locus analysis for next-generation sequencing with the functional linear models
-
Luo, L., Zhu, Y., Xiong, M
-
Luo, L., Zhu, Y., Xiong, M,. 2012a. Quantitative trait locus analysis for next-generation sequencing with the functional linear models. J Med Genet 49:513-524.
-
(2012)
J Med Genet
, vol.49
, pp. 513-524
-
-
-
26
-
-
84872486441
-
Smoothed functional principal component analysis for testing association of the entire allelic spectrum of genetic variation
-
Luo L, Zhu Y, Xiong M. 2012b. Smoothed functional principal component analysis for testing association of the entire allelic spectrum of genetic variation. Eur J Hum Genet 21:217-224.
-
(2012)
Eur J Hum Genet
, vol.21
, pp. 217-224
-
-
Luo, L.1
Zhu, Y.2
Xiong, M.3
-
27
-
-
61449168010
-
A groupwise association test for rare mutations using a weighted sum statistic
-
Madsen BE, Browning SR. 2009. A groupwise association test for rare mutations using a weighted sum statistic. PLoS Genet 5, e1000384.
-
(2009)
PLoS Genet
, vol.5
-
-
Madsen, B.E.1
Browning, S.R.2
-
28
-
-
52949096084
-
Next-generation DNA sequencing methods
-
Mardis ER. 2008. Next-generation DNA sequencing methods. Annu Rev Genomics Hum Genet 9:387-402.
-
(2008)
Annu Rev Genomics Hum Genet
, vol.9
, pp. 387-402
-
-
Mardis, E.R.1
-
29
-
-
84859157934
-
Next generation analytic tools for large scale genetic epidemiology studies of complex diseases
-
others
-
Mechanic LE, Chen HS, Amos CI, Chatterjee N, Cox NJ, Divi RL, Fan RZ, Harris EL, Jacobs K, Kraft P and others,. 2012. Next generation analytic tools for large scale genetic epidemiology studies of complex diseases. Genet Epidemiol 36:22-35.
-
(2012)
Genet Epidemiol
, vol.36
, pp. 22-35
-
-
Mechanic, L.E.1
Chen, H.S.2
Amos, C.I.3
Chatterjee, N.4
Cox, N.J.5
Divi, R.L.6
Fan, R.Z.7
Harris, E.L.8
Jacobs, K.9
Kraft, P.10
-
30
-
-
72849144434
-
Sequencing technologies the next generation
-
Metzker ML. 2010. Sequencing technologies the next generation. Nat Rev Genet 11:31-46.
-
(2010)
Nat Rev Genet
, vol.11
, pp. 31-46
-
-
Metzker, M.L.1
-
31
-
-
79960856649
-
Do high blood folate concentrations exacerbate metabolic abnormalities in people with low vitamin B-12 status?
-
Mills JL, Carter TC, Scott JM, Troendle JF, Gibney ER, Shane B, Kirke PN, Ueland PM, Brody LC, Molloy AM. 2011. Do high blood folate concentrations exacerbate metabolic abnormalities in people with low vitamin B-12 status? Am J Clin Nutr 94:495-500.
-
(2011)
Am J Clin Nutr
, vol.94
, pp. 495-500
-
-
Mills, J.L.1
Carter, T.C.2
Scott, J.M.3
Troendle, J.F.4
Gibney, E.R.5
Shane, B.6
Kirke, P.N.7
Ueland, P.M.8
Brody, L.C.9
Molloy, A.M.10
-
32
-
-
33846014328
-
A strategy to discover genes that carry multi-allelic or mono-allelic risk for common diseases: a cohort allelic sums test (CAST)
-
Morgenthaler S, Thilly WG. 2007. A strategy to discover genes that carry multi-allelic or mono-allelic risk for common diseases: a cohort allelic sums test (CAST). Mutat Res 615:28-56.
-
(2007)
Mutat Res
, vol.615
, pp. 28-56
-
-
Morgenthaler, S.1
Thilly, W.G.2
-
33
-
-
76649136928
-
An evaluation of statistical approaches to rare variant analysis in genetic association studies
-
Morris AP, Zeggini E. 2010. An evaluation of statistical approaches to rare variant analysis in genetic association studies. Genet Epidemiol 34:188-193.
-
(2010)
Genet Epidemiol
, vol.34
, pp. 188-193
-
-
Morris, A.P.1
Zeggini, E.2
-
34
-
-
77949776227
-
Association tests using kernel-based measures of multi-locus genotype similarity between individuals
-
Mukhopadhyay I, Feingold E, Weeks DE, Thalamuthu A. 2010. Association tests using kernel-based measures of multi-locus genotype similarity between individuals. Genet Epidemiol 34:213-221.
-
(2010)
Genet Epidemiol
, vol.34
, pp. 213-221
-
-
Mukhopadhyay, I.1
Feingold, E.2
Weeks, D.E.3
Thalamuthu, A.4
-
35
-
-
79953752624
-
Testing for an unusual distribution of rare variants
-
Neale BM, Rivas MA, Voight BF, Altshuler D, Devlin B, Orho-Melander M, Kathiresan S, Purcell SM, Roeder K, Daly MJ. 2011. Testing for an unusual distribution of rare variants. PLoS Genet 7:e1001322.
-
(2011)
PLoS Genet
, vol.7
-
-
Neale, B.M.1
Rivas, M.A.2
Voight, B.F.3
Altshuler, D.4
Devlin, B.5
Orho-Melander, M.6
Kathiresan, S.7
Purcell, S.M.8
Roeder, K.9
Daly, M.J.10
-
36
-
-
77953121877
-
Pooled association tests for rare variants in exon-resequencing studies
-
Price AL, Kryukov GV, de Bakker PIW, Purcell SM, Staples J, Wei LJ, Sunyaev SR. 2010. Pooled association tests for rare variants in exon-resequencing studies. Am J Hum Genet 86:832-838.
-
(2010)
Am J Hum Genet
, vol.86
, pp. 832-838
-
-
Price, A.L.1
Kryukov, G.V.2
de Bakker, P.I.W.3
Purcell, S.M.4
Staples, J.5
Wei, L.J.6
Sunyaev, S.R.7
-
39
-
-
0003778293
-
-
2nd ed. John Wiley & Sons, New York.
-
Ross SM. 1996. Stochastic Processes, 2nd ed. John Wiley & Sons, New York.
-
(1996)
Stochastic Processes
-
-
Ross, S.M.1
-
40
-
-
37749025169
-
Primer: sequencing the next generation
-
Rusk N, Kiermer V. 2008. Primer: sequencing the next generation. Nat Methods 5:15.
-
(2008)
Nat Methods
, vol.5
, pp. 15
-
-
Rusk, N.1
Kiermer, V.2
-
41
-
-
27544497650
-
Calibrating a coalescent simulation of human genome sequence variation
-
Schaffner SF, Foo C, Gabriel S, Reich D, Daly MJ, Altshuler D. 2005. Calibrating a coalescent simulation of human genome sequence variation. Genome Res 15:1576-1583.
-
(2005)
Genome Res
, vol.15
, pp. 1576-1583
-
-
Schaffner, S.F.1
Foo, C.2
Gabriel, S.3
Reich, D.4
Daly, M.J.5
Altshuler, D.6
-
43
-
-
53649106195
-
Next-generation DNA sequencing
-
Shendure J, Ji H. 2008. Next-generation DNA sequencing. Nat Biotechnol 26:1135-1145.
-
(2008)
Nat Biotechnol
, vol.26
, pp. 1135-1145
-
-
Shendure, J.1
Ji, H.2
-
44
-
-
79960194080
-
Bioinformatic and genetic association analysis of microRNA target sites in one-carbon metabolism genes
-
Stone N, Pangilinan F, Molloy AM, Shane B, Scott JM, Ueland PM, Mills JL, Kirke PN, Sethupathy P, Brody LC. 2011. Bioinformatic and genetic association analysis of microRNA target sites in one-carbon metabolism genes. PLoS One 6:e21851.
-
(2011)
PLoS One
, vol.6
-
-
Stone, N.1
Pangilinan, F.2
Molloy, A.M.3
Shane, B.4
Scott, J.M.5
Ueland, P.M.6
Mills, J.L.7
Kirke, P.N.8
Sethupathy, P.9
Brody, L.C.10
-
45
-
-
85017369930
-
-
3rd ed. Wiley Series in Probability and Statistics, Wiley Interscience, Hoboken, New Jersey.
-
Weisberg S. 2005. Applied Linear Regression, 3rd ed. Wiley Series in Probability and Statistics, Wiley Interscience, Hoboken, New Jersey.
-
(2005)
Applied Linear Regression
-
-
Weisberg, S.1
-
46
-
-
33751114975
-
Generalized genomic distance-based regression methodology for multilocus association analysis
-
Wessel J, Schork NJ. 2006. Generalized genomic distance-based regression methodology for multilocus association analysis. Am J Hum Genet 79:792-806.
-
(2006)
Am J Hum Genet
, vol.79
, pp. 792-806
-
-
Wessel, J.1
Schork, N.J.2
-
47
-
-
77953121307
-
Powerful SNP-set analysis for case-control genome-wide association studies
-
Wu MC, Kraft P, Epstein MP, Taylor DM, Chanock SJ, Hunter, DJ, Lin, X,. 2010. Powerful SNP-set analysis for case-control genome-wide association studies. Am J Hum Genet 86:929-942.
-
(2010)
Am J Hum Genet
, vol.86
, pp. 929-942
-
-
Wu, M.C.1
Kraft, P.2
Epstein, M.P.3
Taylor, D.M.4
Chanock, S.J.5
Hunter, D.J.6
Lin, X.7
-
48
-
-
80051499915
-
Rare-variant association testing for sequencing data with the sequence kernel association test
-
Wu MC, Lee S, Cai T, Li Y, Boehnke M, Lin X. 2011. Rare-variant association testing for sequencing data with the sequence kernel association test. Am J Hum Genet 89:82-93.
-
(2011)
Am J Hum Genet
, vol.89
, pp. 82-93
-
-
Wu, M.C.1
Lee, S.2
Cai, T.3
Li, Y.4
Boehnke, M.5
Lin, X.6
-
49
-
-
78249243049
-
Extending rare-variant testing strategies: analysis of noncoding sequence and imputed genotypes
-
Zawistowski M, Gopalakrishnan S, Ding J, Li Y, Grimm S, Zöllner S. 2010. Extending rare-variant testing strategies: analysis of noncoding sequence and imputed genotypes. Am J Hum Genet 87:604-617.
-
(2010)
Am J Hum Genet
, vol.87
, pp. 604-617
-
-
Zawistowski, M.1
Gopalakrishnan, S.2
Ding, J.3
Li, Y.4
Grimm, S.5
Zöllner, S.6
|