-
1
-
-
82455199557
-
Genetic Analysis Workshop 17 mini-exome simulation
-
Almasy LA, Dyer TD, Peralta JM, Kent Jr JW, Charlesworth JC, Curran JE, Blangero J. 2011. Genetic Analysis Workshop 17 mini-exome simulation. BMC Proc 5:S2.
-
(2011)
BMC Proc
, vol.5
-
-
Almasy, L.A.1
Dyer, T.D.2
Peralta, J.M.3
Kent Jr, J.W.4
Charlesworth, J.C.5
Curran, J.E.6
Blangero, J.7
-
3
-
-
78049336905
-
Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations
-
Bilguvar K, Ozturk AK, Louvi A, Kwan KY, Choi M, Tatli B, Yalnizoglu D, Tuysuz B, Caglayan AO, Gokben S, et al. 2010. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature 467:207-210.
-
(2010)
Nature
, vol.467
, pp. 207-210
-
-
Bilguvar, K.1
Ozturk, A.K.2
Louvi, A.3
Kwan, K.Y.4
Choi, M.5
Tatli, B.6
Yalnizoglu, D.7
Tuysuz, B.8
Caglayan, A.O.9
Gokben, S.10
-
4
-
-
82455173741
-
Comparison of statistical approaches to rare variant analysis for quantitative traits
-
Chen H, Hendricks AE, Cheng Y, Cupples LA, Dupuis J, Liu C-T. 2011. Comparison of statistical approaches to rare variant analysis for quantitative traits. BMC Proc 5:S113.
-
(2011)
BMC Proc
, vol.5
-
-
Chen, H.1
Hendricks, A.E.2
Cheng, Y.3
Cupples, L.A.4
Dupuis, J.5
Liu, C.-T.6
-
5
-
-
82455199394
-
Improved power by collapsing rare and common variants based on a data-adaptive forward selection strategy
-
Dai Y, Guo L, Dong J, Jiang R. 2011. Improved power by collapsing rare and common variants based on a data-adaptive forward selection strategy. BMC Proc 5:S114.
-
(2011)
BMC Proc
, vol.5
-
-
Dai, Y.1
Guo, L.2
Dong, J.3
Jiang, R.4
-
6
-
-
82455175511
-
Brief review of regression-based and machine learning methods in genetic epidemiology: the GAW17 experience
-
this issue.
-
Dasgupta A, Sun YV, König IR, Bailey-Wilson JE, Malley JD. 2011. Brief review of regression-based and machine learning methods in genetic epidemiology: the GAW17 experience. Genet Epidemiol, this issue.
-
(2011)
Genet Epidemiol
-
-
Dasgupta, A.1
Sun, Y.V.2
König, I.R.3
Bailey-Wilson, J.E.4
Malley, J.D.5
-
7
-
-
82455192533
-
Statistical analysis of rare sequence variants: an overview of collapsing methods
-
this issue.
-
Dering C, Hemmelmann C, Pugh E, Ziegler A. 2011a. Statistical analysis of rare sequence variants: an overview of collapsing methods. Genet Epidemiol, this issue.
-
(2011)
Genet Epidemiol
-
-
Dering, C.1
Hemmelmann, C.2
Pugh, E.3
Ziegler, A.4
-
8
-
-
84860915735
-
Comparison of collapsing methods for the statistical analysis of rare variants
-
Dering C, Ziegler A, König IR, Hemmelmann C. 2011b. Comparison of collapsing methods for the statistical analysis of rare variants. BMC Proc 5:S115.
-
(2011)
BMC Proc
, vol.5
-
-
Dering, C.1
Ziegler, A.2
König, I.R.3
Hemmelmann, C.4
-
9
-
-
77952557918
-
Missing heritability and strategies for finding the underlying causes of complex disease
-
Eichler EE, Flint J, Gibson G, Kong A, Leal SM, Moore JH, Nadeau JH. 2010. Missing heritability and strategies for finding the underlying causes of complex disease. Nat Rev Genet 11:446-450.
-
(2010)
Nat Rev Genet
, vol.11
, pp. 446-450
-
-
Eichler, E.E.1
Flint, J.2
Gibson, G.3
Kong, A.4
Leal, S.M.5
Moore, J.H.6
Nadeau, J.H.7
-
10
-
-
77956393882
-
Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome
-
Gilissen C, Arts HH, Hoischen A, Spruijt L, Mans DA, Arts P, van Lier B, Steehouwer M, van Reeuwijk J, Kant SG, et al. 2010. Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. Am J Hum Genet 87:418-423.
-
(2010)
Am J Hum Genet
, vol.87
, pp. 418-423
-
-
Gilissen, C.1
Arts, H.H.2
Hoischen, A.3
Spruijt, L.4
Mans, D.A.5
Arts, P.6
van Lier, B.7
Steehouwer, M.8
van Reeuwijk, J.9
Kant, S.G.10
-
11
-
-
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
-
12
-
-
82455194137
-
Effect of population stratification analysis on false-positive rates for common and rare variants
-
He H, Zhang X, Ding L, Mersha TB, Kurowski BG, Martin LJ. 2011. Effect of population stratification analysis on false-positive rates for common and rare variants. BMC Proc 5:S116.
-
(2011)
BMC Proc
, vol.5
-
-
He, H.1
Zhang, X.2
Ding, L.3
Mersha, T.B.4
Kurowski, B.G.5
Martin, L.J.6
-
13
-
-
34147116715
-
Most rare missense alleles are deleterious in humans: implications for complex disease and association studies
-
Kryukov GV, Pennacchio LA, Sunyaev SR. 2007. Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. Am J Hum Genet 80:727-739.
-
(2007)
Am J Hum Genet
, vol.80
, pp. 727-739
-
-
Kryukov, G.V.1
Pennacchio, L.A.2
Sunyaev, S.R.3
-
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
-
-
77953006634
-
The mutation spectrum revealed by paired genome sequences from a lung cancer patient
-
Lee W, Jiang Z, Liu J, Haverty PM, Guan Y, Stinson J, Yue P, Zhang Y, Pant KP, Bhatt D, et al. 2010. The mutation spectrum revealed by paired genome sequences from a lung cancer patient. Nature 465:473-477.
-
(2010)
Nature
, vol.465
, pp. 473-477
-
-
Lee, W.1
Jiang, Z.2
Liu, J.3
Haverty, P.M.4
Guan, Y.5
Stinson, J.6
Yue, P.7
Zhang, Y.8
Pant, K.P.9
Bhatt, D.10
-
16
-
-
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
-
17
-
-
82455199392
-
Collapsing-based and kernel-based single-gene analyses applied to Genetic Analysis Workshop 17 mini-exome data
-
Li L, Zheng W, Lee JS, Zhang X, Ferguson J, Yan X, Zhao H. 2011. Collapsing-based and kernel-based single-gene analyses applied to Genetic Analysis Workshop 17 mini-exome data. BMC Proc 5:S117.
-
(2011)
BMC Proc
, vol.5
-
-
Li, L.1
Zheng, W.2
Lee, J.S.3
Zhang, X.4
Ferguson, J.5
Yan, X.6
Zhao, H.7
-
18
-
-
82455173743
-
Evaluation of pooled association tests for rare variants identification
-
Lin WY, Zhang B, Yi N, Gao G, Liu N. 2011. Evaluation of pooled association tests for rare variants identification. BMC Proc 5:S118.
-
(2011)
BMC Proc
, vol.5
-
-
Lin, W.Y.1
Zhang, B.2
Yi, N.3
Gao, G.4
Liu, N.5
-
19
-
-
82455199497
-
Evaluating methods for the analysis of rare variants in sequence data
-
Luedtke A, Powers S, Petersen A, Sitarik A, Bekmetjev A, Tintle NL. 2011. Evaluating methods for the analysis of rare variants in sequence data. BMC Proc 5:S119.
-
(2011)
BMC Proc
, vol.5
-
-
Luedtke, A.1
Powers, S.2
Petersen, A.3
Sitarik, A.4
Bekmetjev, A.5
Tintle, N.L.6
-
20
-
-
77950475726
-
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy
-
Lupski JR, Reid JG, Gonzaga-Jauregui C, Rio Deiros D, Chen DC, Nazareth L, Bainbridge M, Dinh H, Jing C, Wheeler DA, et al. 2010. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. New Engl J Med 362:1181-1191.
-
(2010)
New Engl J Med
, vol.362
, pp. 1181-1191
-
-
Lupski, J.R.1
Reid, J.G.2
Gonzaga-Jauregui, C.3
Rio Deiros, D.4
Chen, D.C.5
Nazareth, L.6
Bainbridge, M.7
Dinh, H.8
Jing, C.9
Wheeler, D.A.10
-
21
-
-
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
-
22
-
-
70349956433
-
Finding the missing heritability of complex diseases
-
Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, Hunter DJ, McCarthy MI, Ramos EM, Cardon LR, Chakravarti A, et al. 2009. Finding the missing heritability of complex diseases. Nature 461:747-753.
-
(2009)
Nature
, vol.461
, pp. 747-753
-
-
Manolio, T.A.1
Collins, F.S.2
Cox, N.J.3
Goldstein, D.B.4
Hindorff, L.A.5
Hunter, D.J.6
McCarthy, M.I.7
Ramos, E.M.8
Cardon, L.R.9
Chakravarti, A.10
-
23
-
-
0014054519
-
The detection of disease clustering and a generalized regression approach
-
Mantel N. 1967. The detection of disease clustering and a generalized regression approach. Cancer Res 27:209-220.
-
(1967)
Cancer Res
, vol.27
, pp. 209-220
-
-
Mantel, N.1
-
24
-
-
77956642100
-
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
-
Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, et al. 2010a. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet 42:790-793.
-
(2010)
Nat Genet
, vol.42
, pp. 790-793
-
-
Ng, S.B.1
Bigham, A.W.2
Buckingham, K.J.3
Hannibal, M.C.4
McMillin, M.J.5
Gildersleeve, H.I.6
Beck, A.E.7
Tabor, H.K.8
Cooper, G.M.9
Mefford, H.C.10
-
25
-
-
73349110071
-
Exome sequencing identifies the cause of a Mendelian disorder
-
Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon PT, Jabs EW, Nickerson DA, et al. 2010b. Exome sequencing identifies the cause of a Mendelian disorder. Nat Genet 42:30-35.
-
(2010)
Nat Genet
, vol.42
, pp. 30-35
-
-
Ng, S.B.1
Buckingham, K.J.2
Lee, C.3
Bigham, A.W.4
Tabor, H.K.5
Dent, K.M.6
Huff, C.D.7
Shannon, P.T.8
Jabs, E.W.9
Nickerson, D.A.10
-
26
-
-
77954485448
-
On safari to Random Jungle: a fast implementation of random forests for high-dimensional data
-
Schwarz DF, Konig IR, Ziegler A. 2010. On safari to Random Jungle: a fast implementation of random forests for high-dimensional data. Bioinformatics 26:1752-1758.
-
(2010)
Bioinformatics
, vol.26
, pp. 1752-1758
-
-
Schwarz, D.F.1
Konig, I.R.2
Ziegler, A.3
-
27
-
-
0035992226
-
Mantel statistics to correlate gene expression levels from microarrays with clinical covariates
-
Shannon WD, Watson MA, Perry A, Rich K. 2002. Mantel statistics to correlate gene expression levels from microarrays with clinical covariates. Genet Epidemiol 23:87-96.
-
(2002)
Genet Epidemiol
, vol.23
, pp. 87-96
-
-
Shannon, W.D.1
Watson, M.A.2
Perry, A.3
Rich, K.4
-
28
-
-
77954158128
-
Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene
-
Sobreira NL, Cirulli ET, Avramopoulos D, Wohler E, Oswald GL, Stevens EL, Ge D, Shianna KV, Smith JP, Maia JM, et al. 2010. Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene. PLoS Genet 6:e1000991.
-
(2010)
PLoS Genet
, vol.6
-
-
Sobreira, N.L.1
Cirulli, E.T.2
Avramopoulos, D.3
Wohler, E.4
Oswald, G.L.5
Stevens, E.L.6
Ge, D.7
Shianna, K.V.8
Smith, J.P.9
Maia, J.M.10
-
29
-
-
82455194134
-
Identification of genes associated with complex traits by testing the genetic dissimilarity between individuals
-
Sun YV, Zhao W, Shedden KA, Kardia SL. 2011. Identification of genes associated with complex traits by testing the genetic dissimilarity between individuals. BMC Proc 5:S120.
-
(2011)
BMC Proc
, vol.5
-
-
Sun, Y.V.1
Zhao, W.2
Shedden, K.A.3
Kardia, S.L.4
-
30
-
-
82455170368
-
Application of collapsing methods for continuous traits to the Genetic Analysis Workshop 17 exome sequence data
-
Sung YJ, Rice TK, Rao DC. 2011. Application of collapsing methods for continuous traits to the Genetic Analysis Workshop 17 exome sequence data. BMC Proc 5:S121.
-
(2011)
BMC Proc
, vol.5
-
-
Sung, Y.J.1
Rice, T.K.2
Rao, D.C.3
-
31
-
-
71249151977
-
Machine learning in genome-wide association studies
-
Szymczak S, Biernacka JM, Cordell HJ, Gonzalez-Recio O, Konig IR, Zhang H, Sun YV. 2009. Machine learning in genome-wide association studies. Genet Epidemiol 33:S51-S57.
-
(2009)
Genet Epidemiol
, vol.33
-
-
Szymczak, S.1
Biernacka, J.M.2
Cordell, H.J.3
Gonzalez-Recio, O.4
Konig, I.R.5
Zhang, H.6
Sun, Y.V.7
-
32
-
-
85194972808
-
Regression shrinkage and selection via the LASSO
-
Tibshirani R. 1996. Regression shrinkage and selection via the LASSO. J R Stat Soc Ser B 58:267-288.
-
(1996)
J R Stat Soc Ser B
, vol.58
, pp. 267-288
-
-
Tibshirani, R.1
-
33
-
-
82455194135
-
Inflated type I error rates when using aggregation methods to analyze rare variant data in unrelated individuals: a summary report from Group 7 at Genetic Analysis Workshop 17
-
this issue.
-
Tintle N, Pugh E. 2011. Inflated type I error rates when using aggregation methods to analyze rare variant data in unrelated individuals: a summary report from Group 7 at Genetic Analysis Workshop 17. Genet Epidemiol, this issue.
-
(2011)
Genet Epidemiol
-
-
Tintle, N.1
Pugh, E.2
-
34
-
-
77955084820
-
Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82
-
Walsh T, Shahin H, Elkan-Miller T, Lee MK, Thornton AM, Roeb W, Abu Rayyan A, Loulus S, Avraham KB, King MC, et al. 2010. Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82. Am J Hum Genet 87:90-94.
-
(2010)
Am J Hum Genet
, vol.87
, pp. 90-94
-
-
Walsh, T.1
Shahin, H.2
Elkan-Miller, T.3
Lee, M.K.4
Thornton, A.M.5
Roeb, W.6
Abu Rayyan, A.7
Loulus, S.8
Avraham, K.B.9
King, M.C.10
-
35
-
-
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
-
36
-
-
77954140531
-
Common SNPs explain a large proportion of the heritability for human height
-
Yang J, Benyamin B, McEvoy BP, Gordon S, Henders AK, Nyholt DR, Madden PA, Heath AC, Martin NG, Montgomery GW, et al. 2010. Common SNPs explain a large proportion of the heritability for human height. Nat Genet 42:565-569.
-
(2010)
Nat Genet
, vol.42
, pp. 565-569
-
-
Yang, J.1
Benyamin, B.2
McEvoy, B.P.3
Gordon, S.4
Henders, A.K.5
Nyholt, D.R.6
Madden, P.A.7
Heath, A.C.8
Martin, N.G.9
Montgomery, G.W.10
-
37
-
-
78249243049
-
Extending rare-variant testing strategies: analysis of noncoding sequence and imputed genotypes
-
Zawistowski M, Gopalakrishnan S, Ding J, Li Y, Grimm S, Zollner 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
Zollner, S.6
|