-
1
-
-
84860910413
-
The predictive capacity of personal genome sequencing
-
133ra58
-
Roberts, N.J., Vogelstein, J.T., Parmigiani, G., Kinzler, K.W., Vogelstein, B. and Velculescu, V.E. (2012) The predictive capacity of personal genome sequencing. Sci. Transl. Med., 4, 133ra58.
-
(2012)
Sci. Transl. Med.
, vol.4
-
-
Roberts, N.J.1
Vogelstein, J.T.2
Parmigiani, G.3
Kinzler, K.W.4
Vogelstein, B.5
Velculescu, V.E.6
-
2
-
-
84887080613
-
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration
-
Seddon, J.M., Yu, Y., Miller, E.C., Reynolds, R., Tan, P.L., Gowrisankar, S., Goldstein, J.I., Triebwasser, M., Anderson, H.E., Zerbib, J. et al. (2013) Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration. Nat. Genet., 45, 1366-1370.
-
(2013)
Nat. Genet.
, vol.45
, pp. 1366-1370
-
-
Seddon, J.M.1
Yu, Y.2
Miller, E.C.3
Reynolds, R.4
Tan, P.L.5
Gowrisankar, S.6
Goldstein, J.I.7
Triebwasser, M.8
Anderson, H.E.9
Zerbib, J.10
-
3
-
-
84872057940
-
TREM2 variants in Alzheimer's disease
-
Guerreiro, R., Wojtas, A., Bras, J., Carrasquillo, M., Rogaeva, E., Majounie, E., Cruchaga, C., Sassi, C., Kauwe, J.S., Younkin, S. et al. (2012) TREM2 variants in Alzheimer's disease. N. Engl. J. Med., 368, 117-127.
-
(2012)
N. Engl. J. Med.
, vol.368
, pp. 117-127
-
-
Guerreiro, R.1
Wojtas, A.2
Bras, J.3
Carrasquillo, M.4
Rogaeva, E.5
Majounie, E.6
Cruchaga, C.7
Sassi, C.8
Kauwe, J.S.9
Younkin, S.10
-
4
-
-
79751509762
-
Parkinson's disease: genetics and pathogenesis
-
Shulman, J.M., De Jager, P.L. and Feany, M.B. (2010) Parkinson's disease: genetics and pathogenesis. Annu. Rev. Pathol., 6, 193-222.
-
(2010)
Annu. Rev. Pathol.
, vol.6
, pp. 193-222
-
-
Shulman, J.M.1
De Jager, P.L.2
Feany, M.B.3
-
5
-
-
70549084415
-
Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease
-
Satake, W., Nakabayashi, Y., Mizuta, I., Hirota, Y., Ito, C., Kubo, M., Kawaguchi, T., Tsunoda, T., Watanabe, M., Takeda, A. et al. (2009) Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease. Nat. Genet., 41, 1303-1307.
-
(2009)
Nat. Genet.
, vol.41
, pp. 1303-1307
-
-
Satake, W.1
Nakabayashi, Y.2
Mizuta, I.3
Hirota, Y.4
Ito, C.5
Kubo, M.6
Kawaguchi, T.7
Tsunoda, T.8
Watanabe, M.9
Takeda, A.10
-
6
-
-
70549088602
-
Genome-wide association study reveals genetic risk underlying Parkinson's disease
-
Simon-Sanchez, J., Schulte, C., Bras, J.M., Sharma, M., Gibbs, J.R., Berg, D., Paisan-Ruiz, C., Lichtner, P., Scholz, S.W., Hernandez, D.G. et al. (2009) Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nat. Genet., 41, 1308-1312.
-
(2009)
Nat. Genet.
, vol.41
, pp. 1308-1312
-
-
Simon-Sanchez, J.1
Schulte, C.2
Bras, J.M.3
Sharma, M.4
Gibbs, J.R.5
Berg, D.6
Paisan-Ruiz, C.7
Lichtner, P.8
Scholz, S.W.9
Hernandez, D.G.10
-
7
-
-
79959841853
-
Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease
-
Do, C.B., Tung, J.Y., Dorfman, E., Kiefer, A.K., Drabant, E.M., Francke, U., Mountain, J.L., Goldman, S.M., Tanner, C.M., Langston, J.W. et al. (2011) Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease. PLoS Genet., 7, e1002141.
-
(2011)
PLoS Genet.
, vol.7
-
-
Do, C.B.1
Tung, J.Y.2
Dorfman, E.3
Kiefer, A.K.4
Drabant, E.M.5
Francke, U.6
Mountain, J.L.7
Goldman, S.M.8
Tanner, C.M.9
Langston, J.W.10
-
8
-
-
77956646167
-
Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease
-
Hamza, T.H., Zabetian, C.P., Tenesa, A., Laederach, A., Montimurro, J., Yearout, D., Kay, D.M., Doheny, K.F., Paschall, J., Pugh, E. et al. (2011) Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease. Nat. Genet., 42, 781-785.
-
(2011)
Nat. Genet.
, vol.42
, pp. 781-785
-
-
Hamza, T.H.1
Zabetian, C.P.2
Tenesa, A.3
Laederach, A.4
Montimurro, J.5
Yearout, D.6
Kay, D.M.7
Doheny, K.F.8
Paschall, J.9
Pugh, E.10
-
9
-
-
79951811351
-
Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies
-
Nalls, M.A., Plagnol, V., Hernandez, D.G., Sharma, M., Sheerin, U.M., Saad, M., Simon-Sanchez, J., Schulte, C., Lesage, S., Sveinbjornsdottir, S. et al. (2011) Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. Lancet, 377, 641-649.
-
(2011)
Lancet
, vol.377
, pp. 641-649
-
-
Nalls, M.A.1
Plagnol, V.2
Hernandez, D.G.3
Sharma, M.4
Sheerin, U.M.5
Saad, M.6
Simon-Sanchez, J.7
Schulte, C.8
Lesage, S.9
Sveinbjornsdottir, S.10
-
10
-
-
84859199353
-
Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2
-
Pankratz, N., Beecham, G.W., DeStefano, A.L., Dawson, T.M., Doheny, K.F., Factor, S.A., Hamza, T.H., Hung, A.Y., Hyman, B.T., Ivinson, A.J. et al. (2012) Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2. Ann. Neurol., 71, 370-384.
-
(2012)
Ann. Neurol.
, vol.71
, pp. 370-384
-
-
Pankratz, N.1
Beecham, G.W.2
DeStefano, A.L.3
Dawson, T.M.4
Doheny, K.F.5
Factor, S.A.6
Hamza, T.H.7
Hung, A.Y.8
Hyman, B.T.9
Ivinson, A.J.10
-
11
-
-
79959851714
-
A two-stage meta-analysis identifies several new loci for Parkinson's disease
-
International Parkinson's Disease Genomics Consortium (IPDGC); Wellcome Trust Case Control Consortium 2 (WTCCC2).
-
International Parkinson's Disease Genomics Consortium (IPDGC); Wellcome Trust Case Control Consortium 2 (WTCCC2). (2011) A two-stage meta-analysis identifies several new loci for Parkinson's disease. PLoS Genet., 7, e1002142.
-
(2011)
PLoS Genet.
, vol.7
-
-
-
12
-
-
84859339977
-
Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database
-
Lill, C.M., Roehr, J.T., McQueen, M.B., Kavvoura, F.K., Bagade, S., Schjeide, B.M., Schjeide, L.M., Meissner, E., Zauft, U., Allen, N.C. et al. (2012) Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database. PLoS Genet., 8, e1002548.
-
(2012)
PLoS Genet.
, vol.8
-
-
Lill, C.M.1
Roehr, J.T.2
McQueen, M.B.3
Kavvoura, F.K.4
Bagade, S.5
Schjeide, B.M.6
Schjeide, L.M.7
Meissner, E.8
Zauft, U.9
Allen, N.C.10
-
13
-
-
80052780004
-
Translation initiator EIF4G1 mutations in familial Parkinson disease
-
Chartier-Harlin, M.C., Dachsel, J.C., Vilarino-Guell, C., Lincoln, S.J., Lepretre, F., Hulihan, M.M., Kachergus, J., Milnerwood, A.J., Tapia, L., Song, M.S. et al. (2011) Translation initiator EIF4G1 mutations in familial Parkinson disease. Am. J. Hum. Genet., 89, 398-406.
-
(2011)
Am. J. Hum. Genet.
, vol.89
, pp. 398-406
-
-
Chartier-Harlin, M.C.1
Dachsel, J.C.2
Vilarino-Guell, C.3
Lincoln, S.J.4
Lepretre, F.5
Hulihan, M.M.6
Kachergus, J.7
Milnerwood, A.J.8
Tapia, L.9
Song, M.S.10
-
14
-
-
80051534540
-
A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease
-
Zimprich, A., Benet-Pages, A., Struhal, W., Graf, E., Eck, S.H., Offman, M.N., Haubenberger, D., Spielberger, S., Schulte, E.C., Lichtner, P. et al. (2011) A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. Am. J. Hum. Genet., 89, 168-175.
-
(2011)
Am. J. Hum. Genet.
, vol.89
, pp. 168-175
-
-
Zimprich, A.1
Benet-Pages, A.2
Struhal, W.3
Graf, E.4
Eck, S.H.5
Offman, M.N.6
Haubenberger, D.7
Spielberger, S.8
Schulte, E.C.9
Lichtner, P.10
-
15
-
-
80051488602
-
VPS35 mutations in Parkinson disease
-
Vilarino-Guell, C., Wider, C., Ross, O.A., Dachsel, J.C., Kachergus, J.M., Lincoln, S.J., Soto-Ortolaza, A.I., Cobb, S.A., Wilhoite, G.J., Bacon, J.A. et al. (2011) VPS35 mutations in Parkinson disease. Am. J. Hum. Genet., 89, 162-167.
-
(2011)
Am. J. Hum. Genet.
, vol.89
, pp. 162-167
-
-
Vilarino-Guell, C.1
Wider, C.2
Ross, O.A.3
Dachsel, J.C.4
Kachergus, J.M.5
Lincoln, S.J.6
Soto-Ortolaza, A.I.7
Cobb, S.A.8
Wilhoite, G.J.9
Bacon, J.A.10
-
16
-
-
84865777825
-
Linking disease associations with regulatory information in the human genome
-
Schaub, M.A., Boyle, A.P., Kundaje, A., Batzoglou, S. and Snyder, M. (2012) Linking disease associations with regulatory information in the human genome. Genome Res., 22, 1748-1759.
-
(2012)
Genome Res.
, vol.22
, pp. 1748-1759
-
-
Schaub, M.A.1
Boyle, A.P.2
Kundaje, A.3
Batzoglou, S.4
Snyder, M.5
-
17
-
-
84865822182
-
Systematic localization of common disease-associated variation in regulatory DNA
-
Maurano, M.T., Humbert, R., Rynes, E., Thurman, R.E., Haugen, E., Wang, H., Reynolds, A.P., Sandstrom, R., Qu, H., Brody, J. et al. (2012) Systematic localization of common disease-associated variation in regulatory DNA. Science, 337, 1190-1195.
-
(2012)
Science
, vol.337
, pp. 1190-1195
-
-
Maurano, M.T.1
Humbert, R.2
Rynes, E.3
Thurman, R.E.4
Haugen, E.5
Wang, H.6
Reynolds, A.P.7
Sandstrom, R.8
Qu, H.9
Brody, J.10
-
18
-
-
12244264435
-
Genetic power calculator: design of linkage and association genetic mapping studies of complex traits
-
Purcell, S., Cherny, S.S. and Sham, P.C. (2003) Genetic power calculator: design of linkage and association genetic mapping studies of complex traits. Bioinformatics, 19, 149-150.
-
(2003)
Bioinformatics
, vol.19
, pp. 149-150
-
-
Purcell, S.1
Cherny, S.S.2
Sham, P.C.3
-
19
-
-
79953715693
-
Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel
-
Gonzalez-Perez, A. and Lopez-Bigas, N. (2011) Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel. Am. J. Hum. Genet., 88, 440-449.
-
(2011)
Am. J. Hum. Genet.
, vol.88
, pp. 440-449
-
-
Gonzalez-Perez, A.1
Lopez-Bigas, N.2
-
20
-
-
84864942403
-
Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies
-
NHLBI GO Exome Sequencing Project-ESP Lung Project Team
-
Lee, S., Emond, M.J., Bamshad, M.J., Barnes, K.C., Rieder, M.J. and Nickerson, D.A.; NHLBI GO Exome Sequencing Project-ESP Lung Project Team, Christiani, D.C., Wurfel, M.M. and Lin, X. (2012) 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
-
21
-
-
84878994629
-
Negligible impact of rare autoimmune-locus coding-region variants on missing heritability
-
Hunt, K.A., Mistry, V., Bockett, N.A., Ahmad, T., Ban, M., Barker, J.N., Barrett, J.C., Blackburn, H., Brand, O., Burren, O. et al. (2013) Negligible impact of rare autoimmune-locus coding-region variants on missing heritability. Nature, 498, 232-235.
-
(2013)
Nature
, vol.498
, pp. 232-235
-
-
Hunt, K.A.1
Mistry, V.2
Bockett, N.A.3
Ahmad, T.4
Ban, M.5
Barker, J.N.6
Barrett, J.C.7
Blackburn, H.8
Brand, O.9
Burren, O.10
-
22
-
-
84885019350
-
Variants in CPA1 are strongly associated with early onset chronic pancreatitis
-
Witt, H., Beer, S., Rosendahl, J., Chen, J.M., Chandak, G.R., Masamune, A., Bence, M., Szmola, R., Oracz, G., Macek, M. Jr. et al. (2013) Variants in CPA1 are strongly associated with early onset chronic pancreatitis. Nat. Genet., 45, 1216-1220.
-
(2013)
Nat. Genet.
, vol.45
, pp. 1216-1220
-
-
Witt, H.1
Beer, S.2
Rosendahl, J.3
Chen, J.M.4
Chandak, G.R.5
Masamune, A.6
Bence, M.7
Szmola, R.8
Oracz, G.9
Macek Jr., M.10
-
23
-
-
67649884743
-
Fast and accurate short read alignment with Burrows-Wheeler transform
-
Li, H. and Durbin, R. (2009) Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics, 25, 1754-1760.
-
(2009)
Bioinformatics
, vol.25
, pp. 1754-1760
-
-
Li, H.1
Durbin, R.2
-
24
-
-
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
-
25
-
-
78651271733
-
Integrative genomics viewer
-
Robinson, J.T., Thorvaldsdottir, H., Winckler, W., Guttman, M., Lander, E.S., Getz, G. and Mesirov, J.P. (2011) Integrative genomics viewer. Nat. Biotechnol., 29, 24-26.
-
(2011)
Nat. Biotechnol.
, vol.29
, pp. 24-26
-
-
Robinson, J.T.1
Thorvaldsdottir, H.2
Winckler, W.3
Guttman, M.4
Lander, E.S.5
Getz, G.6
Mesirov, J.P.7
-
26
-
-
34548292504
-
PLINK:a tool set for whole-genome association and population-based linkage analyses
-
Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M.A., Bender, D., Maller, J., Sklar, P., de Bakker, P.I., Daly, M.J. 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
-
27
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei, I.A., Schmidt, S., Peshkin, L., Ramensky, V.E., Gerasimova, A., Bork, P., Kondrashov, A.S. and Sunyaev, S.R. (2010) A method and server for predicting damaging missense mutations. Nat. Methods, 7, 248-249.
-
(2010)
Nat. Methods
, 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
-
28
-
-
0043122919
-
SIFT: predicting amino acid changes that affect protein function
-
Ng, P.C. and 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
-
29
-
-
22244452677
-
Distribution and intensity of constraint in mammalian genomic sequence
-
Cooper, G.M., Stone, E.A., Asimenos, G., Green, E.D., Batzoglou, S. and Sidow, A. (2005) Distribution and intensity of constraint in mammalian genomic sequence. Genome Res., 15, 901-913.
-
(2005)
Genome Res.
, vol.15
, pp. 901-913
-
-
Cooper, G.M.1
Stone, E.A.2
Asimenos, G.3
Green, E.D.4
Batzoglou, S.5
Sidow, A.6
-
30
-
-
77955151784
-
MutationTaster evaluates disease-causing potential of sequence alterations
-
Schwarz, J.M., Rodelsperger, C., Schuelke, M. and Seelow, D. (2010) MutationTaster evaluates disease-causing potential of sequence alterations. Nat. Methods, 7, 575-576.
-
(2010)
Nat. Methods
, vol.7
, pp. 575-576
-
-
Schwarz, J.M.1
Rodelsperger, C.2
Schuelke, M.3
Seelow, D.4
|