-
1
-
-
84891837451
-
The human gene mutation database: Building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine
-
Stenson PD, Mort M, Ball EV, Shaw K, Phillips A, Cooper DN. The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum Genet 2014; 133: 1-9
-
(2014)
Hum Genet
, vol.133
, pp. 1-9
-
-
Stenson, P.D.1
Mort, M.2
Ball, E.V.3
Shaw, K.4
Phillips, A.5
Cooper, D.N.6
-
3
-
-
84891809093
-
ClinVar: Public archive of relationships among sequence variation and human phenotype
-
Landrum MJ, Lee JM, Riley GR, Jang W, Rubinstein WS, Church DM et al. ClinVar: public archive of relationships among sequence variation and human phenotype. Nucl Acids Res 2014; 42: D980-D985
-
(2014)
Nucl Acids Res
, vol.42
, pp. D980-D985
-
-
Landrum, M.J.1
Lee, J.M.2
Riley, G.R.3
Jang, W.4
Rubinstein, W.S.5
Church, D.M.6
-
4
-
-
78651330430
-
COSMIC: Mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer
-
Forbes SA, Bindal N, Bamford S, Cole C, Kok CY, Beare D et al. COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer. Nucl Acids Res 2011; 39: D945-D950
-
(2011)
Nucl Acids Res
, vol.39
, pp. D945-D950
-
-
Forbes, S.A.1
Bindal, N.2
Bamford, S.3
Cole, C.4
Kok, C.Y.5
Beare, D.6
-
5
-
-
84888862866
-
DGIdb: Mining the druggable genome
-
Griffith M, Griffith OL, Coffman AC, Weible JV, McMichael JF, Spies NC et al. DGIdb: mining the druggable genome. Nat Meth 2013; 10: 1209-1210
-
(2013)
Nat Meth
, vol.10
, pp. 1209-1210
-
-
Griffith, M.1
Griffith, O.L.2
Coffman, A.C.3
Weible, J.V.4
McMichael, J.F.5
Spies, N.C.6
-
7
-
-
84866611528
-
Pharmacogenomics knowledge for personalized medicine
-
Whirl-Carrillo M, McDonagh EM, Hebert JM, Gong L, Sangkuhl K, Thorn CF et al. Pharmacogenomics knowledge for personalized medicine. Clin Pharmacol Ther 2012; 92: 414-417
-
(2012)
Clin Pharmacol Ther
, vol.92
, pp. 414-417
-
-
Whirl-Carrillo, M.1
McDonagh, E.M.2
Hebert, J.M.3
Gong, L.4
Sangkuhl, K.5
Thorn, C.F.6
-
8
-
-
84961902227
-
-
Available At
-
Available at http://www.fda.gov/Drugs/GuidanceComplianceRegulatoryInformation/Guidances/ucm065010.htm
-
-
-
-
9
-
-
0035173378
-
DbSNP: The NCBI database of genetic variation
-
Sherry ST, Ward M-H, Kholodov M, Baker J, Phan L, Smigielski EM et al. dbSNP: the NCBI database of genetic variation. Nucl Acids Res 2001; 29: 308-311
-
(2001)
Nucl Acids Res
, vol.29
, pp. 308-311
-
-
Sherry, S.T.1
Ward, M.-H.2
Kholodov, M.3
Baker, J.4
Phan, L.5
Smigielski, E.M.6
-
10
-
-
79959503826
-
The international hapmap project
-
International HapMap Consortium.
-
International HapMap Consortium. The International HapMap Project. Nature 2003; 426: 789-796
-
(2003)
Nature
, vol.426
, pp. 789-796
-
-
-
11
-
-
11144232766
-
Medical subject headings
-
Rogers FB. Medical subject headings. Bull Med Libr Assoc 1963; 51: 114-116
-
(1963)
Bull Med Libr Assoc
, vol.51
, pp. 114-116
-
-
Rogers, F.B.1
-
12
-
-
0037421584
-
Inheritance and drug response
-
Weinshilboum R. Inheritance and drug response. N Engl J Med 2003; 348: 529-537
-
(2003)
N Engl J Med
, vol.348
, pp. 529-537
-
-
Weinshilboum, R.1
-
13
-
-
84879503677
-
Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysis
-
Classen CF, Riehmer V, Landwehr C, Kosfeld A, Heilmann S, Scholz C et al. Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysis. Hum Genet 2013; 132: 825-841
-
(2013)
Hum Genet
, vol.132
, pp. 825-841
-
-
Classen, C.F.1
Riehmer, V.2
Landwehr, C.3
Kosfeld, A.4
Heilmann, S.5
Scholz, C.6
-
14
-
-
34249934339
-
Integrating pathway data for systems pathology
-
Wingender E, Hogan J, Schacherer F, Potapov AP, Kel-Margoulis O. Integrating pathway data for systems pathology. In Silico Biol 2007; 7: S17-S25
-
(2007)
Silico Biol
, vol.7
, pp. S17-S25
-
-
Wingender, E.1
Hogan, J.2
Schacherer, F.3
Potapov, A.P.4
Kel-Margoulis, O.5
-
15
-
-
33644876958
-
Transfac and its module transcompel: Transcriptional gene regulation in eukaryotes
-
Matys V, Kel-Margoulis OV, Fricke E, Liebich I, Land S, Barre-Dirrie A et al. TRANSFAC and its module TRANSCompel: transcriptional gene regulation in eukaryotes. Nucl Acids Res 2006; 34: D108-D110
-
(2006)
Nucl Acids Res
, vol.34
, pp. D108-D110
-
-
Matys, V.1
Kel-Margoulis, O.V.2
Fricke, E.3
Liebich, I.4
Land, S.5
Barre-Dirrie, A.6
-
16
-
-
84975795680
-
An integrated map of genetic variation from 1,092 human genomes
-
1000 Genomes Project Consortium
-
Genomes Project Consortium, Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM et al. An integrated map of genetic variation from 1,092 human genomes. Nature 2012; 491: 56-65
-
(2012)
Nature
, vol.491
, pp. 56-65
-
-
Abecasis, G.R.1
Auton, A.2
Brooks, L.D.3
DePristo, M.A.4
Durbin, R.M.5
-
17
-
-
84870523554
-
-
Seattle WA. USA. Available at
-
NHLBI GO Exome Sequencing Project (ESP), Seattle, WA, USA Available at https://esp.gs.washington.edu/drupal/.
-
NHLBI GO Exome Sequencing Project (ESP
-
-
|