-
1
-
-
0025183708
-
Basic local alignment search tool
-
Altschul SF, Gish W, Miller W, Myers EW, Lipman DJ. 1990. Basic local alignment search tool. J Mol Biol 215:403-410.
-
(1990)
J Mol Biol
, vol.215
, pp. 403-410
-
-
Altschul, S.F.1
Gish, W.2
Miller, W.3
Myers, E.W.4
Lipman, D.J.5
-
2
-
-
31044436017
-
Determination of cytochrome P450 2D6 (CYP2D6) gene copy number by real-time quantitative PCR
-
Bodin L, Beaune PH, Loriot MA. 2005. Determination of cytochrome P450 2D6 (CYP2D6) gene copy number by real-time quantitative PCR. J Biomed Biotechnol 3:248-253.
-
(2005)
J Biomed Biotechnol
, vol.3
, pp. 248-253
-
-
Bodin, L.1
Beaune, P.H.2
Loriot, M.A.3
-
3
-
-
0037316303
-
A comparison of normalization methods for high density oligonucleotide array data based on variance and bias
-
Bolstad BM, Irizarry RA, Astrand M, Speed TP. 2003. A comparison of normalization methods for high density oligonucleotide array data based on variance and bias. Bioinformatics 19:185-193.
-
(2003)
Bioinformatics
, vol.19
, pp. 185-193
-
-
Bolstad, B.M.1
Irizarry, R.A.2
Astrand, M.3
Speed, T.P.4
-
4
-
-
77954733893
-
cnvHap: an integrative population and haplotype-based multiplatform model of SNPs and CNVs
-
Coin LJM, Asher JE, Walters RG, El-Sayed Moustafa JS, de Smith AJ, Sladek R, Balding DJ, Froguel P, Blakemore AIF. 2010. cnvHap: an integrative population and haplotype-based multiplatform model of SNPs and CNVs. Nat Methods 7:541-546.
-
(2010)
Nat Methods
, vol.7
, pp. 541-546
-
-
Coin, L.J.M.1
Asher, J.E.2
Walters, R.G.3
El-Sayed Moustafa, J.S.4
de Smith, A.J.5
Sladek, R.6
Balding, D.J.7
Froguel, P.8
Blakemore, A.I.F.9
-
5
-
-
34247877877
-
QuantiSNP: an objective Bayes hidden-Markov model to detect and accurately map copy number variation using SNP genotyping data
-
Colella S, Yau C, Taylor JM, Mirza G, Butler H, Clouston P, Bassett AS, Seller A, Holmes CC, Ragoussis J. 2007. QuantiSNP: an objective Bayes hidden-Markov model to detect and accurately map copy number variation using SNP genotyping data. Nucleic Acids Res 35:2013-2025.
-
(2007)
Nucleic Acids Res
, vol.35
, pp. 2013-2025
-
-
Colella, S.1
Yau, C.2
Taylor, J.M.3
Mirza, G.4
Butler, H.5
Clouston, P.6
Bassett, A.S.7
Seller, A.8
Holmes, C.C.9
Ragoussis, J.10
-
6
-
-
77950461601
-
Origins and functional impact of copy number variation in the human genome
-
Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, Zhang Y, Aerts J, Andrews TD, Barnes C, Campbell P, Fitzgerald T, Hu M, Ihm CH, Kristiansson K, Macarthur DG, Macdonald JR, Onyiah I, Pang AW, Robson S, Stirrups K, Valsesia A, Walter K, Wellcome Trust Case Consortium Control WJ, Smith T, Carter NP, Lee C, Scherer SW, Hurles ME. 2010. Origins and functional impact of copy number variation in the human genome. Nature 464:704-712.
-
(2010)
Nature
, vol.464
, pp. 704-712
-
-
Conrad, D.F.1
Pinto, D.2
Redon, R.3
Feuk, L.4
Gokcumen, O.5
Zhang, Y.6
Aerts, J.7
Andrews, T.D.8
Barnes, C.9
Campbell, P.10
Fitzgerald, T.11
Hu, M.12
Ihm, C.H.13
Kristiansson, K.14
Macarthur, D.G.15
Macdonald, J.R.16
Onyiah, I.17
Pang, A.W.18
Robson, S.19
Stirrups, K.20
Valsesia, A.21
Walter, K.22
Wellcome Trust Case Consortium Control, W.J.23
Smith, T.24
Carter, N.P.25
Lee, C.26
Scherer, S.W.27
Hurles, M.E.28
more..
-
7
-
-
0032714352
-
Genomic control for association studies
-
Devlin B, Roeder K. 1999. Genomic control for association studies. Biometrics 55:997-1004.
-
(1999)
Biometrics
, vol.55
, pp. 997-1004
-
-
Devlin, B.1
Roeder, K.2
-
8
-
-
0029130796
-
Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population
-
Excoffier L, Slatkin M. 1995. Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population. Mol Biol Evol 12:921-927.
-
(1995)
Mol Biol Evol
, vol.12
, pp. 921-927
-
-
Excoffier, L.1
Slatkin, M.2
-
10
-
-
44349148621
-
Detection, imputation, and association analysis of small deletions and null alleles on oligonucleotide arrays
-
Franke F, de Kovel CG, Aulchenko YS, Trynka G, Zhernakova A, Hunt KA, Blauw HM, van den Berg LH, Ophoff R, Deloukas P, van Heel DA, Wijmenga C. 2008. Detection, imputation, and association analysis of small deletions and null alleles on oligonucleotide arrays. Am J Hum Genet 82:1316-1333.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 1316-1333
-
-
Franke, F.1
de Kovel, C.G.2
Aulchenko, Y.S.3
Trynka, G.4
Zhernakova, A.5
Hunt, K.A.6
Blauw, H.M.7
van den Berg, L.H.8
Ophoff, R.9
Deloukas, P.10
van Heel, D.A.11
Wijmenga, C.12
-
11
-
-
9244229940
-
Hidden Markov models approach to the analysis of array cgh data
-
Fridlyand J, Snijders AM, Pinkel D, Albertson DG, Jain AN, ANAjay NJ. 2004. Hidden Markov models approach to the analysis of array cgh data. J Multivariate Anal 90:132-153.
-
(2004)
J Multivariate Anal
, vol.90
, pp. 132-153
-
-
Fridlyand, J.1
Snijders, A.M.2
Pinkel, D.3
Albertson, D.G.4
Jain, A.N.5
ANAjay, N.J.6
-
12
-
-
67349182343
-
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
-
Glessner JT, Wang K, Cai G, Korvatska O, Kim CE, Wood S, Zhang H, Estes A, Brune CW, Bradfield JP, Imielinski M, Frackelton EC, Reichert J, Crawford EL, Munson J, Sleiman PM, Chiavacci R, Annaiah K, Thomas K, Hou C, Glaberson W, Flory J, Otieno F, Garris M, Soorya L, Klei L, Piven J, Meyer KJ, Anagnostou E, Sakurai T, Game RM, Rudd DS, Zurawiecki D, McDougle CJ, Davis LK, Miller J, Posey DJ, Michaels S, Kolevzon A, Silverman JM, Bernier R, Levy SE, Schultz RT, Dawson G, Owley T, McMahon WM, Wassink TH, Sweeney JA, Nurnberger JI, Coon H, Sutcliffe JS, Minshew NJ, Grant SF, Bucan M, Cook EH, Buxbaum JD, Devlin B, Schellenberg GD, Hakonarson H. 2009. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature 459:569-573.
-
(2009)
Nature
, vol.459
, pp. 569-573
-
-
Glessner, J.T.1
Wang, K.2
Cai, G.3
Korvatska, O.4
Kim, C.E.5
Wood, S.6
Zhang, H.7
Estes, A.8
Brune, C.W.9
Bradfield, J.P.10
Imielinski, M.11
Frackelton, E.C.12
Reichert, J.13
Crawford, E.L.14
Munson, J.15
Sleiman, P.M.16
Chiavacci, R.17
Annaiah, K.18
Thomas, K.19
Hou, C.20
Glaberson, W.21
Flory, J.22
Otieno, F.23
Garris, M.24
Soorya, L.25
Klei, L.26
Piven, J.27
Meyer, K.J.28
Anagnostou, E.29
Sakurai, T.30
Game, R.M.31
Rudd, D.S.32
Zurawiecki, D.33
McDougle, C.J.34
Davis, L.K.35
Miller, J.36
Posey, D.J.37
Michaels, S.38
Kolevzon, A.39
Silverman, J.M.40
Bernier, R.41
Levy, S.E.42
Schultz, R.T.43
Dawson, G.44
Owley, T.45
McMahon, W.M.46
Wassink, T.H.47
Sweeney, J.A.48
Nurnberger, J.I.49
Coon, H.50
Sutcliffe, J.S.51
Minshew, N.J.52
Grant, S.F.53
Bucan, M.54
Cook, E.H.55
Buxbaum, J.D.56
Devlin, B.57
Schellenberg, G.D.58
Hakonarson, H.59
more..
-
13
-
-
67249117049
-
Potential etiologic and functional implications of genome-wide association loci for human diseases and traits
-
Hindorff LA, Sethupathy P, Junkins HA, Ramos EM, Mehta JP, Collins FS, Manolio TA. 2009. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc Natl Acad Sci USA 106:9362-9367.
-
(2009)
Proc Natl Acad Sci USA
, vol.106
, pp. 9362-9367
-
-
Hindorff, L.A.1
Sethupathy, P.2
Junkins, H.A.3
Ramos, E.M.4
Mehta, J.P.5
Collins, F.S.6
Manolio, T.A.7
-
14
-
-
68149149465
-
CYP2D6 genotyping for functional-gene dosage analysis by allele copy number detection
-
Hosono N, Kato M, Kiyotani K, Mushiroda T, Takata S, Sato H, Amitani H, Tsuchiya Y, Yamazaki K, Tsunoda T, Zembutsu H, Nakamura Y, Kubo M. 2009. CYP2D6 genotyping for functional-gene dosage analysis by allele copy number detection. Clin Chem 55:1546-1554.
-
(2009)
Clin Chem
, vol.55
, pp. 1546-1554
-
-
Hosono, N.1
Kato, M.2
Kiyotani, K.3
Mushiroda, T.4
Takata, S.5
Sato, H.6
Amitani, H.7
Tsuchiya, Y.8
Yamazaki, K.9
Tsunoda, T.10
Zembutsu, H.11
Nakamura, Y.12
Kubo, M.13
-
15
-
-
77649184039
-
Genome-wide association study of hematological and biochemical traits in a japanese population
-
Kamatani Y, Matsuda K, Okada Y, Kubo M, Hosono N, Daigo Y, Nakamura Y, Kamatani N. 2010. Genome-wide association study of hematological and biochemical traits in a japanese population. Nat Genet 42:210-215.
-
(2010)
Nat Genet
, vol.42
, pp. 210-215
-
-
Kamatani, Y.1
Matsuda, K.2
Okada, Y.3
Kubo, M.4
Hosono, N.5
Daigo, Y.6
Nakamura, Y.7
Kamatani, N.8
-
16
-
-
52949085789
-
Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs
-
Korn JM, Kuruvilla FG, McCarroll SA, Wysoker A, Nemesh J, Cawley S, Hubbell E, Veitch J, Collins PJ, Darvishi K, Lee C, Nizzari MM, Gabriel SB, Purcell S, Daly MJ, Altshuler D. 2008. Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs. Nat Genet 40:1253-1260.
-
(2008)
Nat Genet
, vol.40
, pp. 1253-1260
-
-
Korn, J.M.1
Kuruvilla, F.G.2
McCarroll, S.A.3
Wysoker, A.4
Nemesh, J.5
Cawley, S.6
Hubbell, E.7
Veitch, J.8
Collins, P.J.9
Darvishi, K.10
Lee, C.11
Nizzari, M.M.12
Gabriel, S.B.13
Purcell, S.14
Daly, M.J.15
Altshuler, D.16
-
17
-
-
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, Cho JH, Guttmacher AE, Kong A, Kruglyak L, Mardis E, Rotimi CN, Slatkin M, Valle D, Whittemore AS, Boehnke M, Clark AG, Eichler EE, Gibson G, Haines JL, Mackay TF, McCarroll SA, Visscher PM. 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
Cho, J.H.11
Guttmacher, A.E.12
Kong, A.13
Kruglyak, L.14
Mardis, E.15
Rotimi, C.N.16
Slatkin, M.17
Valle, D.18
Whittemore, A.S.19
Boehnke, M.20
Clark, A.G.21
Eichler, E.E.22
Gibson, G.23
Haines, J.L.24
Mackay, T.F.25
McCarroll, S.A.26
Visscher, P.M.27
more..
-
18
-
-
33646163019
-
Biohmm: a heterogeneous hidden Markov model for segmenting array cgh data
-
Marioni JC, Thorne NP, Tavar/'e S. 2006. Biohmm: a heterogeneous hidden Markov model for segmenting array cgh data. Bioinformatics 22:1144-1146.
-
(2006)
Bioinformatics
, vol.22
, pp. 1144-1146
-
-
Marioni, J.C.1
Thorne, N.P.2
Tavare, S.3
-
19
-
-
42949174747
-
Breaking the waves: improved detection of copy number variation from microarray-based comparative genomic hybridization
-
Marioni JC, Thorne NP, Valsesia A, Fitzgerald T, Redon R, Fiegler H, Andrews TD, Stranger BE, Lynch AG, Dermitzakis ET, Carter NP, Tavar S, Hurles ME. 2007. Breaking the waves: improved detection of copy number variation from microarray-based comparative genomic hybridization. Genome Biol 8:R228.
-
(2007)
Genome Biol
, vol.8
-
-
Marioni, J.C.1
Thorne, N.P.2
Valsesia, A.3
Fitzgerald, T.4
Redon, R.5
Fiegler, H.6
Andrews, T.D.7
Stranger, B.E.8
Lynch, A.G.9
Dermitzakis, E.T.10
Carter, N.P.11
Tavar, S.12
Hurles, M.E.13
-
20
-
-
50449091647
-
Deletion polymorphism upstream of irgm associated with altered irgm expression and crohn's disease
-
McCarroll SA, Huett A, Kuballa P, Chilewski SD, Landry A, Goyette P, Zody MC, Hall JL, Brant SR, Cho JH, Duerr RH, Silverberg MS, Taylor KD, Rioux JD, Altshuler D, Daly MJ, Xavier RJ. 2008. Deletion polymorphism upstream of irgm associated with altered irgm expression and crohn's disease. Nat Genet 40:1107-1112.
-
(2008)
Nat Genet
, vol.40
, pp. 1107-1112
-
-
McCarroll, S.A.1
Huett, A.2
Kuballa, P.3
Chilewski, S.D.4
Landry, A.5
Goyette, P.6
Zody, M.C.7
Hall, J.L.8
Brant, S.R.9
Cho, J.H.10
Duerr, R.H.11
Silverberg, M.S.12
Taylor, K.D.13
Rioux, J.D.14
Altshuler, D.15
Daly, M.J.16
Xavier, R.J.17
-
21
-
-
52949141845
-
Integrated detection and population-genetic analysis of SNPs and copy number variation
-
McCarroll SA, Kuruvilla FG, Korn JM, Cawley S, Nemesh J, Wysoker A, Shapero MH, de Bakker PI, Maller JM, Kirby A, Elliott AL, Parkin M, Hubbell E, Webster T, Mei R, Veitch J, Collins PJ, Handsaker R, Lincoln S, Nizzari M, Blume J, Jones KW, Rava R, Daly MJ, Gabriel SB, Altshuler D. 2008. Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat Genet 40:1166-1174.
-
(2008)
Nat Genet
, vol.40
, pp. 1166-1174
-
-
McCarroll, S.A.1
Kuruvilla, F.G.2
Korn, J.M.3
Cawley, S.4
Nemesh, J.5
Wysoker, A.6
Shapero, M.H.7
de Bakker, P.I.8
Maller, J.M.9
Kirby, A.10
Elliott, A.L.11
Parkin, M.12
Hubbell, E.13
Webster, T.14
Mei, R.15
Veitch, J.16
Collins, P.J.17
Handsaker, R.18
Lincoln, S.19
Nizzari, M.20
Blume, J.21
Jones, K.W.22
Rava, R.23
Daly, M.J.24
Gabriel, S.B.25
Altshuler, D.26
more..
-
23
-
-
84975804424
-
Mapping copy number variation by population-scale genome sequencing
-
1000 Genomes Project
-
Mills RE, Walter K, Stewart C, Handsaker RE, Chen K, Alkan C, Abyzov A, Yoon SC, Ye K, Cheetham RK, Chinwalla A, Conrad DF, Fu Y, Grubert F, Hajirasouliha I, Hormozdiari F, Iakoucheva LM, Iqbal Z, Kang S, Kidd JM, Konkel MK, Korn J, Khurana E, Kural D, Lam HY, Leng J, Li R, Li Y, Lin CY, Luo R, Mu XJ, Nemesh J, Peckham HE, Rausch T, Scally A, Shi X, Stromberg MP, tz SM, Urban AE, Walker JA, Wu J, Zhang Y, Zhang ZD, Batzer MA, Ding L, Marth GT, McVean G, Sebat J, Snyder M, Wang J, Ye K, Eichler EE, Gerstein MB, Hurles ME, Lee C, McCarroll SA, O KJ, 1000 Genomes Project. 2011. Mapping copy number variation by population-scale genome sequencing. Nature 470:59-65.
-
(2011)
Nature
, vol.470
, pp. 59-65
-
-
Mills, R.E.1
Walter, K.2
Stewart, C.3
Handsaker, R.E.4
Chen, K.5
Alkan, C.6
Abyzov, A.7
Yoon, S.C.8
Ye, K.9
Cheetham, R.K.10
Chinwalla, A.11
Conrad, D.F.12
Fu, Y.13
Grubert, F.14
Hajirasouliha, I.15
Hormozdiari, F.16
Iakoucheva, L.M.17
Iqbal, Z.18
Kang, S.19
Kidd, J.M.20
Konkel, M.K.21
Korn, J.22
Khurana, E.23
Kural, D.24
Lam, H.Y.25
Leng, J.26
Li, R.27
Li, Y.28
Lin, C.Y.29
Luo, R.30
Mu, X.J.31
Nemesh, J.32
Peckham, H.E.33
Rausch, T.34
Scally, A.35
Shi, X.36
Stromberg, M.P.37
tz, S.M.38
Urban, A.E.39
Walker, J.A.40
Wu, J.41
Zhang, Y.42
Zhang, Z.D.43
Batzer, M.A.44
Ding, L.45
Marth, G.T.46
McVean, G.47
Sebat, J.48
Snyder, M.49
Wang, J.50
Ye, K.51
Eichler, E.E.52
Gerstein, M.B.53
Hurles, M.E.54
Lee, C.55
McCarroll, S.A.56
O, K.J.57
more..
-
24
-
-
70749096913
-
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants
-
Myocardial Infarction Genetics Consortium, Wellcome Trust Case Consortium Control HAS
-
Myocardial Infarction Genetics Consortium, Kathiresan S, Voight BF, Purcell S, Musunuru K, Ardissino D, Mannucci PM, Anand S, Engert JC, Samani NJ, Schunkert H, Erdmann J, Reilly MP, Rader DJ, Morgan T, Spertus JA, Stoll M, Girelli D, McKeown PP, Patterson CC, Siscovick DS, Donnell OJ, Elosua R, Peltonen L, Salomaa V, Schwartz SM, Melander O, Altshuler D, Ardissino D, Merlini PA, Berzuini C, Bernardinelli L, Peyvandi F, Tubaro M, Celli P, Ferrario M, Fetiveau R, Marziliano N, Casari G, Galli M, Ribichini F, Rossi M, Bernardi F, Zonzin P, Piazza A, Mannucci PM, Schwartz SM, Siscovick DS, Yee J, Friedlander Y, Elosua R, Marrugat J, Lucas G, Subirana I, Sala J, Ramos R, Kathiresan S, Meigs JB, Williams G, Nathan DM, MacRae CA, Donnell OJ, Salomaa V, Havulinna AS, Peltonen L, Melander O, Berglund G, Voight BF, Kathiresan S, Hirschhorn JN, Asselta R, Duga S, Spreafico M, Musunuru K, Daly MJ, Purcell S, Voight BF, Purcell S, Nemesh J, Korn JM, McCarroll SA, Schwartz SM, Yee J, Kathiresan S, Lucas G, Subirana I, Elosua R, Surti A, Guiducci C, Gianniny L, Mirel D, Parkin M, Burtt N, Gabriel SB, Samani NJ, Thompson JR, Braund PS, Wright BJ, Balmforth AJ, Ball SG, Wellcome Trust Case Consortium Control HAS, Schunkert H, Erdmann J, Nitschke LP, Lieb W, Ziegler A, nig K, Hengstenberg C, Fischer M, Stark K, Grosshennig A, Preuss M, Wichmann HE, Schreiber S, Schunkert H, Samani NJ, Erdmann J, Ouwehand W, Hengstenberg C, Deloukas P, Scholz M, Cambien F, Reilly MP, Li M, Chen Z, Wilensky R, Matthai W, Qasim A, Hakonarson HH, Devaney J, Burnett MS, Pichard AD, Kent KM, Satler L, Lindsay JM, Waksman R, Knouff CW, Waterworth DM, Walker MC, Mooser V, Epstein SE, Rader DJ, Scheffold T, Berger K, Stoll M, Huge A, Girelli D, Martinelli N, Olivieri O, Corrocher R, Morgan T, Spertus JA, McKeown P, Patterson CC, Schunkert H, Erdmann E, Nitschke LP, Lieb W, Ziegler A, nig KR, Hengstenberg C, Fischer M, Stark K, Grosshennig A, Preuss M, Wichmann HE, Schreiber S, lm H, Thorleifsson G, Thorsteinsdottir U, Stefansson K, Engert JC, Do R, Xie C, Anand S, Kathiresan S, Ardissino D, Mannucci PM, Siscovick D, Donnell OJ, Samani NJ, Melander O, Elosua R, Peltonen L, Salomaa V, Schwartz SM, Altshuler D. 2009. Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nat Genet 41:334-341.
-
(2009)
Nat Genet
, vol.41
, pp. 334-341
-
-
Kathiresan, S.1
Voight, B.F.2
Purcell, S.3
Musunuru, K.4
Ardissino, D.5
Mannucci, P.M.6
Anand, S.7
Engert, J.C.8
Samani, N.J.9
Schunkert, H.10
Erdmann, J.11
Reilly, M.P.12
Rader, D.J.13
Morgan, T.14
Spertus, J.A.15
Stoll, M.16
Girelli, D.17
McKeown, P.P.18
Patterson, C.C.19
Siscovick, D.S.20
Donnell, O.J.21
Elosua, R.22
Peltonen, L.23
Salomaa, V.24
Schwartz, S.M.25
Melander, O.26
Altshuler, D.27
Ardissino, D.28
Merlini, P.A.29
Berzuini, C.30
Bernardinelli, L.31
Peyvandi, F.32
Tubaro, M.33
Celli, P.34
Ferrario, M.35
Fetiveau, R.36
Marziliano, N.37
Casari, G.38
Galli, M.39
Ribichini, F.40
Rossi, M.41
Bernardi, F.42
Zonzin, P.43
Piazza, A.44
Mannucci, P.M.45
Schwartz, S.M.46
Siscovick, D.S.47
Yee, J.48
Friedlander, Y.49
Elosua, R.50
Marrugat, J.51
Lucas, G.52
Subirana, I.53
Sala, J.54
Ramos, R.55
Kathiresan, S.56
Meigs, J.B.57
Williams, G.58
Nathan, D.M.59
MacRae, C.A.60
Donnell, O.J.61
Salomaa, V.62
Havulinna, A.S.63
Peltonen, L.64
Melander, O.65
Berglund, G.66
Voight, B.F.67
Kathiresan, S.68
Hirschhorn, J.N.69
Asselta, R.70
Duga, S.71
Spreafico, M.72
Musunuru, K.73
Daly, M.J.74
Purcell, S.75
Voight, B.F.76
Purcell, S.77
Nemesh, J.78
Korn, J.M.79
McCarroll, S.A.80
Schwartz, S.M.81
Yee, J.82
Kathiresan, S.83
Lucas, G.84
Subirana, I.85
Elosua, R.86
Surti, A.87
Guiducci, C.88
Gianniny, L.89
Mirel, D.90
Parkin, M.91
Burtt, N.92
Gabriel, S.B.93
Samani, N.J.94
Thompson, J.R.95
Braund, P.S.96
Wright, B.J.97
Balmforth, A.J.98
Ball, S.G.99
Schunkert, H.100
Erdmann, J.101
Nitschke, L.P.102
Lieb, W.103
Ziegler, A.104
nig, K.105
Hengstenberg, C.106
Fischer, M.107
Stark, K.108
Grosshennig, A.109
Preuss, M.110
Wichmann, H.E.111
Schreiber, S.112
Schunkert, H.113
Samani, N.J.114
Erdmann, J.115
Ouwehand, W.116
Hengstenberg, C.117
Deloukas, P.118
Scholz, M.119
Cambien, F.120
Reilly, M.P.121
Li, M.122
Chen, Z.123
Wilensky, R.124
Matthai, W.125
Qasim, A.126
Hakonarson, H.H.127
Devaney, J.128
Burnett, M.S.129
Pichard, A.D.130
Kent, K.M.131
Satler, L.132
Lindsay, J.M.133
Waksman, R.134
Knouff, C.W.135
Waterworth, D.M.136
Walker, M.C.137
Mooser, V.138
Epstein, S.E.139
Rader, D.J.140
Scheffold, T.141
Berger, K.142
Stoll, M.143
Huge, A.144
Girelli, D.145
Martinelli, N.146
Olivieri, O.147
Corrocher, R.148
Morgan, T.149
Spertus, J.A.150
McKeown, P.151
Patterson, C.C.152
Schunkert, H.153
Erdmann, E.154
Nitschke, L.P.155
Lieb, W.156
Ziegler, A.157
nig, K.R.158
Hengstenberg, C.159
Fischer, M.160
Stark, K.161
Grosshennig, A.162
Preuss, M.163
Wichmann, H.E.164
Schreiber, S.165
lm, H.166
Thorleifsson, G.167
Thorsteinsdottir, U.168
Stefansson, K.169
Engert, J.C.170
Do, R.171
Xie, C.172
Anand, S.173
Kathiresan, S.174
Ardissino, D.175
Mannucci, P.M.176
Siscovick, D.177
Donnell, O.J.178
Samani, N.J.179
Melander, O.180
Elosua, R.181
Peltonen, L.182
Salomaa, V.183
Schwartz, S.M.184
Altshuler, D.185
more..
-
25
-
-
38449122380
-
The biobank japan project
-
Nakamura Y. 2007. The biobank japan project. Clin Adv Hematol Oncol 5:696-697.
-
(2007)
Clin Adv Hematol Oncol
, vol.5
, pp. 696-697
-
-
Nakamura, Y.1
-
26
-
-
77951719393
-
Discovery of common asian copy number variants using integrated high-resolution array CGH and massively parallel dna sequencing
-
Park H, Kim JI, Ju YS, Gokcumen O, Mills RE, Kim S, Lee S, Suh D, Hong D, Kang HP, Yoo YJ, Shin JY, Kim HJ, Yavartanoo M, Chang YW, Ha JS, Chong W, Hwang GR, Darvishi K, Kim H, Yang SJ, Yang KS, Kim H, Hurles ME, Scherer SW, Carter NP, Smith TC, Lee C, Seo JS. 2010. Discovery of common asian copy number variants using integrated high-resolution array CGH and massively parallel dna sequencing. Nat Genet 42:400-405.
-
(2010)
Nat Genet
, vol.42
, pp. 400-405
-
-
Park, H.1
Kim, J.I.2
Ju, Y.S.3
Gokcumen, O.4
Mills, R.E.5
Kim, S.6
Lee, S.7
Suh, D.8
Hong, D.9
Kang, H.P.10
Yoo, Y.J.11
Shin, J.Y.12
Kim, H.J.13
Yavartanoo, M.14
Chang, Y.W.15
Ha, J.S.16
Chong, W.17
Hwang, G.R.18
Darvishi, K.19
Kim, H.20
Yang, S.J.21
Yang, K.S.22
Kim, H.23
Hurles, M.E.24
Scherer, S.W.25
Carter, N.P.26
Smith, T.C.27
Lee, C.28
Seo, J.S.29
more..
-
28
-
-
38849183559
-
Sparse representation and bayesian detection of genome copy number alterations from microarray data
-
Pique-Regi R, Monso-Varona J, Ortega A, Seeger RC, Triche TJ, Asgharzadeh S. 2008. Sparse representation and bayesian detection of genome copy number alterations from microarray data. Bioinformatics. 24:309-318.
-
(2008)
Bioinformatics
, vol.24
, pp. 309-318
-
-
Pique-Regi, R.1
Monso-Varona, J.2
Ortega, A.3
Seeger, R.C.4
Triche, T.J.5
Asgharzadeh, S.6
-
29
-
-
34249693630
-
A method to address differential bias in genotyping in large-scale association studies
-
Plagnol V, Cooper JD, Todd JA, Clayton DG. 2007. A method to address differential bias in genotyping in large-scale association studies. PLoS Genet 3:e74.
-
(2007)
PLoS Genet
, vol.3
-
-
Plagnol, V.1
Cooper, J.D.2
Todd, J.A.3
Clayton, D.G.4
-
30
-
-
33751329250
-
Global variation in copy number in the human genome
-
Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W, Cho EK, Dallaire S, Freeman JL, González JR, Gratacós M, Huang J, Kalaitzopoulos D, Komura D, amd C∼R∼Marshall JRM, Mei R, Montgomery L, Nishimura K, Okamura K, Shen F, Somerville MJ, Tchinda J, Valsesia A, Woodwark C, Yang F, Zhang J, Zerjal T, Zhang J, Armengol L, Conrad DF, Estivill X, Tyler-Smith C, Carter NP, Aburatani H, Lee C, Jones KW, Scherer SW, Hurles ME. 2006. Global variation in copy number in the human genome. Nature 444:444-454.
-
(2006)
Nature
, vol.444
, pp. 444-454
-
-
Redon, R.1
Ishikawa, S.2
Fitch, K.R.3
Feuk, L.4
Perry, G.H.5
Andrews, T.D.6
Fiegler, H.7
Shapero, M.H.8
Carson, A.R.9
Chen, W.10
Cho, E.K.11
Dallaire, S.12
Freeman, J.L.13
González, J.R.14
Gratacós, M.15
Huang, J.16
Kalaitzopoulos, D.17
Komura, D.18
amd C∼R∼Marshall, J.R.M.19
Mei, R.20
Montgomery, L.21
Nishimura, K.22
Okamura, K.23
Shen, F.24
Somerville, M.J.25
Tchinda, J.26
Valsesia, A.27
Woodwark, C.28
Yang, F.29
Zhang, J.30
Zerjal, T.31
Zhang, J.32
Armengol, L.33
Conrad, D.F.34
Estivill, X.35
Tyler-Smith, C.36
Carter, N.P.37
Aburatani, H.38
Lee, C.39
Jones, K.W.40
Scherer, S.W.41
Hurles, M.E.42
more..
-
31
-
-
3242808027
-
Large-scale copy number polymorphism in the human genome
-
Sebat J, Lakshmi B, Troge J, Alexander J, Young J, Lundin P, Man Ver S, Massa H, Walker M, Chi M, Navin N, Lucito R, Healy J, Hicks J, Ye K, Reiner A, Gilliam TC, Trask B, Patterson N, Zetterberg A, Wigler M. 2004. Large-scale copy number polymorphism in the human genome. Science 305:525-528.
-
(2004)
Science
, vol.305
, pp. 525-528
-
-
Sebat, J.1
Lakshmi, B.2
Troge, J.3
Alexander, J.4
Young, J.5
Lundin, P.6
Man Ver, S.7
Massa, H.8
Walker, M.9
Chi, M.10
Navin, N.11
Lucito, R.12
Healy, J.13
Hicks, J.14
Ye, K.15
Reiner, A.16
Gilliam, T.C.17
Trask, B.18
Patterson, N.19
Zetterberg, A.20
Wigler, M.21
more..
-
32
-
-
35348983887
-
A second generation human haplotype map of over 3.1 million SNPs
-
The International HapMap Consortium.
-
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
-
-
-
33
-
-
77949692390
-
Bayesian methods for examining Hardy-weinberg equilibrium
-
Wakefield J. 2010. Bayesian methods for examining Hardy-weinberg equilibrium. Biometrics 66:257-265.
-
(2010)
Biometrics
, vol.66
, pp. 257-265
-
-
Wakefield, J.1
-
34
-
-
35948984173
-
PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data
-
Wang K, Li M, Hadley D, Liu R, Glessner J, Grant SF, Hakonarson H, Bucan M. 2007. PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res 17:1665-1674.
-
(2007)
Genome Res
, vol.17
, pp. 1665-1674
-
-
Wang, K.1
Li, M.2
Hadley, D.3
Liu, R.4
Glessner, J.5
Grant, S.F.6
Hakonarson, H.7
Bucan, M.8
-
35
-
-
77950405093
-
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
-
Wellcome Trust Case Control Consortium.
-
Wellcome Trust Case Control Consortium. 2010. Genome-wide association study of CNVs in 16, 000 cases of eight common diseases and 3, 000 shared controls. Nature 464:713-720.
-
(2010)
Nature
, vol.464
, pp. 713-720
-
-
|