-
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. 2010. 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
-
-
6444240715
-
Estimation in generalized linear models for functional data via penalized likelihood
-
Cardot H, Sarda P. 2005. Estimation in generalized linear models for functional data via penalized likelihood. J Multivariate Anal 92:24-41.
-
(2005)
J Multivariate Anal
, vol.92
, pp. 24-41
-
-
Cardot, H.1
Sarda, P.2
-
3
-
-
84865687732
-
Hirschsprungs disease and variants in genes that regulate enteric neural crest cell proliferation, migration, and differentiation
-
Carter TC, Kay DM, Browne ML, Liu AY, Romitti PA, Kuehn D, Conley MR, Caggana M, Druschel CM, Brody LC and others. 2012. Hirschsprungs disease and variants in genes that regulate enteric neural crest cell proliferation, migration, and differentiation. J Hum Genet 57:485-493.
-
(2012)
J Hum Genet
, vol.57
, pp. 485-493
-
-
Carter, T.C.1
Kay, D.M.2
Browne, M.L.3
Liu, A.Y.4
Romitti, P.A.5
Kuehn, D.6
Conley, M.R.7
Caggana, M.8
Druschel, C.M.9
Brody, L.C.10
-
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
-
6
-
-
84885732028
-
Functional linear models for association analysis of quantitative traits
-
Fan R, Wang Y, Mills JL, Wilson AF, Bailey-Wilson JE, Xiong M. 2013. Functional linear models for association analysis of quantitative traits. Genet Epidemiol 37:726-742.
-
(2013)
Genet Epidemiol
, vol.37
, pp. 726-742
-
-
Fan, R.1
Wang, Y.2
Mills, J.L.3
Wilson, A.F.4
Bailey-Wilson, J.E.5
Xiong, M.6
-
10
-
-
79957848735
-
Testing against a high-dimensional alternative in the generalized linear model: asymptotic type I error control
-
Goeman JJ, van Houwelingen HC, Finos L. 2011. Testing against a high-dimensional alternative in the generalized linear model: asymptotic type I error control. Biometrika 98:381-390.
-
(2011)
Biometrika
, vol.98
, pp. 381-390
-
-
Goeman, J.J.1
van Houwelingen, H.C.2
Finos, L.3
-
11
-
-
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
-
12
-
-
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
-
13
-
-
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
-
14
-
-
84877256755
-
Sherlock: detecting gene-disease associations by matching patterns of expression QTL and GWAS
-
He X, Fuller CK, Song Y, Meng Q, Zhang B, Yang X, Li H. 2013. Sherlock: detecting gene-disease associations by matching patterns of expression QTL and GWAS. Am J Hum Genet 92:667-680.
-
(2013)
Am J Hum Genet
, vol.92
, pp. 667-680
-
-
He, X.1
Fuller, C.K.2
Song, Y.3
Meng, Q.4
Zhang, B.5
Yang, X.6
Li, H.7
-
16
-
-
35348983887
-
A second generation human haplotype map of over 3.1 million SNPs
-
The International HapMap Consortium. 2007. A second generation human haplotype map of over 3.1 million SNPs. Nature 449:851-861.
-
(2007)
Nature
, vol.449
, pp. 851-861
-
-
-
17
-
-
84878878253
-
Sequence kernel association tests for the combined effect of rare and common variants
-
Ionita-Laza I, Lee S, Makarov V, Buxbaum JD, Lin X. 2013. Sequence kernel association tests for the combined effect of rare and common variants. Am J Hum Genet 92:841-853.
-
(2013)
Am J Hum Genet
, vol.92
, pp. 841-853
-
-
Ionita-Laza, I.1
Lee, S.2
Makarov, V.3
Buxbaum, J.D.4
Lin, X.5
-
18
-
-
84877260532
-
MASTOR: mixed-model association mapping of quantitative traits in samples with related individuals
-
Jakobsdottir J, McPeek MS. 2013. MASTOR: mixed-model association mapping of quantitative traits in samples with related individuals. Am J Hum Genet 92:652-666.
-
(2013)
Am J Hum Genet
, vol.92
, pp. 652-666
-
-
Jakobsdottir, J.1
McPeek, M.S.2
-
19
-
-
0036020889
-
Generalized linear models with functional predictor variables
-
James G. 2002. Generalized linear models with functional predictor variables. J R Stat Soc B 64:411-432.
-
(2002)
J R Stat Soc B
, vol.64
, pp. 411-432
-
-
James, G.1
-
20
-
-
84908269306
-
Classical testing in functional linear models
-
Kong D, Staicu A, Maity A. 2014. Classical testing in functional linear models. http://www4.stat.ncsu.edu/~staicu/papers/ClassicalTest_FLM_KSM.pdf
-
(2014)
-
-
Kong, D.1
Staicu, A.2
Maity, A.3
-
21
-
-
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
-
22
-
-
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, Christiani DC, Wurfel MM, Lin X.
-
Lee S, Emond MJ, Bamshad MJ, Barnes KC, Rieder MJ, Nickerson DA, NHLBI GO Exome Sequencing ProjectESP Lung Project Team, Christiani DC, Wurfel MM, 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
-
23
-
-
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
-
24
-
-
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
-
25
-
-
77957553245
-
Deciding the dimension of effective dimension reduction space for functional and high-dimensional data
-
Li Y, Hsing T. 2010. Deciding the dimension of effective dimension reduction space for functional and high-dimensional data. Annal Stat 38:3028-3062.
-
(2010)
Annal Stat
, vol.38
, pp. 3028-3062
-
-
Li, Y.1
Hsing, T.2
-
26
-
-
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
-
27
-
-
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
-
28
-
-
84866342705
-
Quantitative trait locus analysis for next-generation sequencing with the functional linear models
-
Luo L, Zhu Y, Xiong M. 2012. 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
-
-
Luo, L.1
Zhu, Y.2
Xiong, M.3
-
29
-
-
84872486441
-
Smoothed functional principal component analysis for testing association of the entire allelic spectrum of genetic variation
-
Luo L, Zhu Y, Xiong M. 2013. Smoothed functional principal component analysis for testing association of the entire allelic spectrum of genetic variation. Eur J Hum Genet 21:217-224.
-
(2013)
Eur J Hum Genet
, vol.21
, pp. 217-224
-
-
Luo, L.1
Zhu, Y.2
Xiong, M.3
-
30
-
-
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
, pp. e1000384
-
-
Madsen, B.E.1
Browning, S.R.2
-
31
-
-
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
-
32
-
-
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
-
33
-
-
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
-
34
-
-
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
-
35
-
-
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
-
36
-
-
19744372814
-
Generalized functional linear models
-
Müller H, Stadtmüller U. 2005. Generalized functional linear models. Annal Stat 33:774-805.
-
(2005)
Annal Stat
, vol.33
, pp. 774-805
-
-
Müller, H.1
Stadtmüller, U.2
-
37
-
-
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
, pp. e1001322
-
-
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
-
38
-
-
84864485434
-
Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects
-
Pangilinan F, Molloy AM, Mills JL, Troendle JF, Parle-McDermott A, Signore C, O'Leary VB, Chines P, Seay JM, Geiler-Samerotte K and others. 2012. Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects. BMC Med Genet 13:62.
-
(2012)
BMC Med Genet
, vol.13
, pp. 62
-
-
Pangilinan, F.1
Molloy, A.M.2
Mills, J.L.3
Troendle, J.F.4
Parle-McDermott, A.5
Signore, C.6
O'Leary, V.B.7
Chines, P.8
Seay, J.M.9
Geiler-Samerotte, K.10
-
39
-
-
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
-
43
-
-
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
-
44
-
-
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
-
46
-
-
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
-
47
-
-
76049108917
-
ROADTRIPS: case-control association testing with partially or completely unknown population and pedigree structure
-
Thornton T, McPeek MS. 2010. ROADTRIPS: case-control association testing with partially or completely unknown population and pedigree structure. Am J Hum Genet 86:172-184.
-
(2010)
Am J Hum Genet
, vol.86
, pp. 172-184
-
-
Thornton, T.1
McPeek, M.S.2
-
48
-
-
71849108773
-
ATRIUM: testing untyped SNPs in case-control association studies with related individuals
-
Wang Z, McPeek MS. 2009. ATRIUM: testing untyped SNPs in case-control association studies with related individuals. Am J Hum Genet 85:667-678.
-
(2009)
Am J Hum Genet
, vol.85
, pp. 667-678
-
-
Wang, Z.1
McPeek, M.S.2
-
49
-
-
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
-
50
-
-
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
-
51
-
-
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
|