-
1
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR. 2010. A method and server for predicting damaging missense mutations. Nat Meth 7:248-249.
-
(2010)
Nat Meth
, vol.7
, pp. 248-249
-
-
Adzhubei, I.A.1
Schmidt, S.2
Peshkin, L.3
Ramensky, V.E.4
Gerasimova, A.5
Bork, P.6
Kondrashov, A.S.7
Sunyaev, S.R.8
-
2
-
-
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
-
-
77958088279
-
Rare variant association analysis methods for complex traits
-
Asimit J, Zeggini E. 2010. Rare variant association analysis methods for complex traits. Annu Rev Genet 44:293-308.
-
(2010)
Annu Rev Genet
, vol.44
, pp. 293-308
-
-
Asimit, J.1
Zeggini, E.2
-
4
-
-
82455211304
-
Population structure analysis using rare and common functional variants
-
Baye TM, He H, Ding L, Kurowski BG, Zhang X, Martin LJ. 2011. Population structure analysis using rare and common functional variants. BMC Proc 5:S8.
-
(2011)
BMC Proc
, vol.5
-
-
Baye, T.M.1
He, H.2
Ding, L.3
Kurowski, B.G.4
Zhang, X.5
Martin, L.J.6
-
5
-
-
44349132708
-
Common and rare variants in multifactorial susceptibility to common diseases
-
Bodmer W, Bonilla C. 2008. Common and rare variants in multifactorial susceptibility to common diseases. Nat Genet 40:695-701.
-
(2008)
Nat Genet
, vol.40
, pp. 695-701
-
-
Bodmer, W.1
Bonilla, C.2
-
6
-
-
82455215083
-
Pairwise shared genomic segment analysis in high-risk pedigrees: application to Genetic Analysis Workshop 17 exome-sequencing SNP data
-
Cai Z, Knight S, Thomas A, Camp NJ. 2011. Pairwise shared genomic segment analysis in high-risk pedigrees: application to Genetic Analysis Workshop 17 exome-sequencing SNP data. BMC Proc 5:S9.
-
(2011)
BMC Proc
, vol.5
-
-
Cai, Z.1
Knight, S.2
Thomas, A.3
Camp, N.J.4
-
7
-
-
48449096116
-
GenoWatch: a disease gene mining browser for association study
-
Chen YH, Liu CK, Chang SC, Lin YJ, Tsai MF, Chen YT, Yao A. 2008. GenoWatch: a disease gene mining browser for association study. Nucleic Acids Res 36:W336-W340.
-
(2008)
Nucleic Acids Res
, vol.36
-
-
Chen, Y.H.1
Liu, C.K.2
Chang, S.C.3
Lin, Y.J.4
Tsai, M.F.5
Chen, Y.T.6
Yao, A.7
-
8
-
-
82455175511
-
Brief review of regression-based and machine learning methods in genetic epidemiology: the GAW17 experience
-
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 X:X-X.
-
(2011)
Genet Epidemiol
, vol.10
-
-
Dasgupta, A.1
Sun, Y.V.2
König, I.R.3
Bailey-Wilson, J.E.4
Malley, J.D.5
-
9
-
-
82455192533
-
Statistical analysis of rare sequence variants: an overview of collapsing methods
-
Dering C, Hemmelmann C, Pugh E, Ziegler A. 2011. Statistical analysis of rare sequence variants: an overview of collapsing methods. Genet Epidemiol X:X-X.
-
(2011)
Genet Epidemiol
, vol.10
-
-
Dering, C.1
Hemmelmann, C.2
Pugh, E.3
Ziegler, A.4
-
10
-
-
82455211303
-
Detection of associations with rare and common SNPs for quantitative traits: a nonparametric Bayes-based approach
-
Ding L, Baye TM, He H, Zhang X, Kurowski BG, Martin LJ. 2011. Detection of associations with rare and common SNPs for quantitative traits: a nonparametric Bayes-based approach. BMC Proc 5:S10.
-
(2011)
BMC Proc
, vol.5
-
-
Ding, L.1
Baye, T.M.2
He, H.3
Zhang, X.4
Kurowski, B.G.5
Martin, L.J.6
-
11
-
-
0037029395
-
Association between c135G/A genotype and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease
-
Fitze G, Cramer J, Ziegler A, Schierz M, Schreiber M, Kuhlisch E, Roesner D, Schackert HK. 2002. Association between c135G/A genotype and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease. Lancet 359:1200-1205.
-
(2002)
Lancet
, vol.359
, pp. 1200-1205
-
-
Fitze, G.1
Cramer, J.2
Ziegler, A.3
Schierz, M.4
Schreiber, M.5
Kuhlisch, E.6
Roesner, D.7
Schackert, H.K.8
-
12
-
-
82455200315
-
Successful identification of rare variants using oligogenic segregation analysis as a prioritizing tool for whole-genome sequencing studies
-
Gagnon F, Roslin NM, Lemire M. 2011. Successful identification of rare variants using oligogenic segregation analysis as a prioritizing tool for whole-genome sequencing studies. BMC Proc 5:S11.
-
(2011)
BMC Proc
, vol.5
-
-
Gagnon, F.1
Roslin, N.M.2
Lemire, M.3
-
13
-
-
82455215082
-
Evaluation of a LASSO regression approach on the unrelated samples of Genetic Analysis Workshop 17
-
Guo W, Elston RC, Zhu X. 2011. Evaluation of a LASSO regression approach on the unrelated samples of Genetic Analysis Workshop 17. BMC Proc 5:S12.
-
(2011)
BMC Proc
, vol.5
-
-
Guo, W.1
Elston, R.C.2
Zhu, X.3
-
14
-
-
0030833349
-
Markov chain Monte Carlo segregation and linkage analysis for oligogenic models
-
Heath SC. 1997. Markov chain Monte Carlo segregation and linkage analysis for oligogenic models. Am J Hum Genet 61:748-760.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 748-760
-
-
Heath, S.C.1
-
15
-
-
82455183342
-
Identification of functional genetic variation in exome sequence analysis
-
Jaffe A, Wojcik G, Chu A, Golozar A, Maroo A, Duggal P, Klein AP. 2011. Identification of functional genetic variation in exome sequence analysis. BMC Proc 5:S13.
-
(2011)
BMC Proc
, vol.5
-
-
Jaffe, A.1
Wojcik, G.2
Chu, A.3
Golozar, A.4
Maroo, A.5
Duggal, P.6
Klein, A.P.7
-
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
-
-
77956295988
-
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data
-
McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M, et al. 2010. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 20:1297-1303.
-
(2010)
Genome Res
, vol.20
, pp. 1297-1303
-
-
McKenna, A.1
Hanna, M.2
Banks, E.3
Sivachenko, A.4
Cibulskis, K.5
Kernytsky, A.6
Garimella, K.7
Altshuler, D.8
Gabriel, S.9
Daly, M.10
-
19
-
-
0043122919
-
SIFT: predicting amino acid changes that affect protein function
-
Ng PC, Henikoff S. 2003. SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res 31:3812-3814.
-
(2003)
Nucleic Acids Res
, vol.31
, pp. 3812-3814
-
-
Ng, P.C.1
Henikoff, S.2
-
20
-
-
38049066260
-
Association testing by haplotype-sharing methods applicable to whole-genome analysis
-
Nolte IM, de Vries AR, Spijker GT, Jansen RC, Brinza D, Zelikovsky A, Te Meerman GJ. 2007. Association testing by haplotype-sharing methods applicable to whole-genome analysis. BMC Proc 1:S129.
-
(2007)
BMC Proc
, vol.1
-
-
Nolte, I.M.1
de Vries, A.R.2
Spijker, G.T.3
Jansen, R.C.4
Brinza, D.5
Zelikovsky, A.6
Te Meerman, G.J.7
-
21
-
-
0034118493
-
Inference of population structure using multilocus genotype data
-
Pritchard JK, Stephens M, Donnelly P. 2000. Inference of population structure using multilocus genotype data. Genetics 155:945-959.
-
(2000)
Genetics
, vol.155
, pp. 945-959
-
-
Pritchard, J.K.1
Stephens, M.2
Donnelly, P.3
-
22
-
-
34548292504
-
PLINK: a tool set for whole-genome association and population-based linkage analyses
-
Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, et al. 2007. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81:559-575.
-
(2007)
Am J Hum Genet
, vol.81
, pp. 559-575
-
-
Purcell, S.1
Neale, B.2
Todd-Brown, K.3
Thomas, L.4
Ferreira, M.A.5
Bender, D.6
Maller, J.7
Sklar, P.8
de Bakker, P.I.9
Daly, M.J.10
-
23
-
-
82455211300
-
Tiled Regression Analysis Package (TRAP): software implementation of tiled regression methodology
-
Sorant AJM, Cai J, Sung H, Kim Y, Wilson A. 2010. Tiled Regression Analysis Package (TRAP): software implementation of tiled regression methodology. Genet Epidemiol 34:984-985.
-
(2010)
Genet Epidemiol
, vol.34
, pp. 984-985
-
-
Sorant, A.J.M.1
Cai, J.2
Sung, H.3
Kim, Y.4
Wilson, A.5
-
24
-
-
22244437614
-
Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity
-
Stone EA, Sidow A. 2005. Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity. Genome Res 15:978-986.
-
(2005)
Genome Res
, vol.15
, pp. 978-986
-
-
Stone, E.A.1
Sidow, A.2
-
25
-
-
82455211302
-
Comparing nominal and real quality scores on next-generation sequencing genotype calls
-
Stram AH. 2011. Comparing nominal and real quality scores on next-generation sequencing genotype calls. BMC Proc 5:S14.
-
(2011)
BMC Proc
, vol.5
-
-
Stram, A.H.1
-
26
-
-
82455211301
-
Comparison of results from tests of association in unrelated individuals with uncollapsed and collapsed sequence variants using tiled regression
-
Sung H, Kim Y, Cai J, Cropp CD, Simpson CL, Li Q, Perry BC, Sorant AJ, Bailey-Wilson JE, Wilson AF. 2011. Comparison of results from tests of association in unrelated individuals with uncollapsed and collapsed sequence variants using tiled regression. BMC Proc 5:S15.
-
(2011)
BMC Proc
, vol.5
-
-
Sung, H.1
Kim, Y.2
Cai, J.3
Cropp, C.D.4
Simpson, C.L.5
Li, Q.6
Perry, B.C.7
Sorant, A.J.8
Bailey-Wilson, J.E.9
Wilson, A.F.10
-
27
-
-
0035869223
-
Prediction of deleterious human alleles
-
Sunyaev S, Ramensky V, Koch I, Lathe III W, Kondrashov AS, Bork P. 2001. Prediction of deleterious human alleles. Hum Mol Genet 10:591-597.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 591-597
-
-
Sunyaev, S.1
Ramensky, V.2
Koch, I.3
Lathe III, W.4
Kondrashov, A.S.5
Bork, P.6
-
28
-
-
38949189981
-
Shared genomic segment analysis: mapping disease predisposition genes in extended pedigrees using SNP genotype assays
-
Thomas A, Camp NJ, Farnham JM, Allen-Brady K, Cannon-Albright LA. 2008. Shared genomic segment analysis: mapping disease predisposition genes in extended pedigrees using SNP genotype assays. Ann Hum Genet 72:279-287.
-
(2008)
Ann Hum Genet
, vol.72
, pp. 279-287
-
-
Thomas, A.1
Camp, N.J.2
Farnham, J.M.3
Allen-Brady, K.4
Cannon-Albright, L.A.5
-
29
-
-
85194972808
-
Regression shrinkage and selection via the LASSO
-
Tibshirani R. 1996. Regression shrinkage and selection via the LASSO. J R Stat Soc 58:267-288.
-
(1996)
J R Stat Soc
, vol.58
, pp. 267-288
-
-
Tibshirani, R.1
|