-
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 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
-
2
-
-
84931292033
-
Long read nanopore sequencing for detection of HLA and CYP2D6 variants and haplotypes
-
Ammar R, Paton TA, Torti D, Shlien A, Bader GD. 2015. Long read nanopore sequencing for detection of HLA and CYP2D6 variants and haplotypes. F1000Res 4:17.
-
(2015)
F1000Res
, vol.4
, pp. 17
-
-
Ammar, R.1
Paton, T.A.2
Torti, D.3
Shlien, A.4
Bader, G.D.5
-
3
-
-
84930730612
-
GenoChip CYP2D6 macroarray as a method to genotype for CYP2D6 variants: results of a validation study in a Caucasian population
-
Bank PCD, Swen JJ, Guchelaar H-J, van der Straaten T. 2015. GenoChip CYP2D6 macroarray as a method to genotype for CYP2D6 variants: results of a validation study in a Caucasian population. Pharmacogenomics 16:681–687.
-
(2015)
Pharmacogenomics
, vol.16
, pp. 681-687
-
-
Bank, P.C.D.1
Swen, J.J.2
Guchelaar, H.-J.3
van der Straaten, T.4
-
4
-
-
84864518203
-
Pacific biosciences sequencing technology for genotyping and variation discovery in human data
-
Carneiro MO, Russ C, Ross MG, Gabriel SB, Nusbaum C, DePristo MA. 2012. Pacific biosciences sequencing technology for genotyping and variation discovery in human data. BMC Genomics 13:375.
-
(2012)
BMC Genomics
, vol.13
, pp. 375
-
-
Carneiro, M.O.1
Russ, C.2
Ross, M.G.3
Gabriel, S.B.4
Nusbaum, C.5
DePristo, M.A.6
-
5
-
-
0033987736
-
Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion
-
Den Dunnen JT, Antonarakis SE. 2000. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15:7–12.
-
(2000)
Hum Mutat
, vol.15
, pp. 7-12
-
-
Den Dunnen, J.T.1
Antonarakis, S.E.2
-
6
-
-
79951805438
-
Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations
-
De Leeneer K, Hellemans J, De Schrijver J, Baetens M, Poppe B, van Criekinge W, de Paepe A, Coucke P, Claes K. 2011. Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations. Hum Mutat 32:335–344.
-
(2011)
Hum Mutat
, vol.32
, pp. 335-344
-
-
De Leeneer, K.1
Hellemans, J.2
De Schrijver, J.3
Baetens, M.4
Poppe, B.5
van Criekinge, W.6
de Paepe, A.7
Coucke, P.8
Claes, K.9
-
7
-
-
84942985377
-
CYP2D6 genotype- and endoxifen-guided tamoxifen dose escalation increases endoxifen serum concentrations without increasing side effects
-
Dezentjé VO, Opdam FL, Gelderblom H, Hartigh den J, van der Straaten T, Vree R, Maartense E, Smorenburg CH, Putter H, Dieudonné AS, Neven P, van de Velde CJH, et al. 2015. CYP2D6 genotype- and endoxifen-guided tamoxifen dose escalation increases endoxifen serum concentrations without increasing side effects. Breast Cancer Res Treat 153:583–590.
-
(2015)
Breast Cancer Res Treat
, vol.153
, pp. 583-590
-
-
Dezentjé, V.O.1
Opdam, F.L.2
Gelderblom, H.3
Hartigh den, J.4
van der Straaten, T.5
Vree, R.6
Maartense, E.7
Smorenburg, C.H.8
Putter, H.9
Dieudonné, A.S.10
Neven, P.11
van de Velde, C.J.H.12
-
8
-
-
84895067896
-
Next-generation sequencing of pharmacogenes: a critical analysis focusing on schizophrenia treatment
-
Drögemöller BI, Wright GEB, Niehaus DJH, Emsley R, Warnich L. 2013. Next-generation sequencing of pharmacogenes: a critical analysis focusing on schizophrenia treatment. Pharmacogenet Genomics 23:666–674.
-
(2013)
Pharmacogenet Genomics
, vol.23
, pp. 666-674
-
-
Drögemöller, B.I.1
Wright, G.E.B.2
Niehaus, D.J.H.3
Emsley, R.4
Warnich, L.5
-
10
-
-
79954997174
-
LOVD v.2.0: the next generation in gene variant databases
-
Fokkema IFAC, Taschner PEM, Schaafsma GCP, Celli J, Laros JFJ, den Dunnen JT. 2011. LOVD v.2.0: the next generation in gene variant databases. Hum Mutat 32:557–563.
-
(2011)
Hum Mutat
, vol.32
, pp. 557-563
-
-
Fokkema, I.F.A.C.1
Taschner, P.E.M.2
Schaafsma, G.C.P.3
Celli, J.4
Laros, J.F.J.5
den Dunnen, J.T.6
-
11
-
-
84886690638
-
Complexities of CYP2D6 gene analysis and interpretation
-
Gaedigk A. 2013. Complexities of CYP2D6 gene analysis and interpretation. Int Rev Psychiatry 25:534–553.
-
(2013)
Int Rev Psychiatry
, vol.25
, pp. 534-553
-
-
Gaedigk, A.1
-
12
-
-
41149086705
-
The CYP2D6 gene locus in South African Coloureds: unique allele distributions, novel alleles and gene arrangements
-
Gaedigk A, Coetsee C. 2008. The CYP2D6 gene locus in South African Coloureds: unique allele distributions, novel alleles and gene arrangements. Eur J Clin Pharmacol 64:465–475.
-
(2008)
Eur J Clin Pharmacol
, vol.64
, pp. 465-475
-
-
Gaedigk, A.1
Coetsee, C.2
-
13
-
-
33846643134
-
Cytochrome P4502D6 (CYP2D6) gene locus heterogeneity: characterization of gene duplication events
-
Gaedigk A, Ndjountché L, Divakaran K, DiAnne Bradford L, Zineh I, Oberlander TF, Brousseau DC, McCarver DG, Johnson JA, Alander SW, Wayne Riggs K, Steven Leeder J. 2007. Cytochrome P4502D6 (CYP2D6) gene locus heterogeneity: characterization of gene duplication events. Clin Pharmacol Ther 81:242–251.
-
(2007)
Clin Pharmacol Ther
, vol.81
, pp. 242-251
-
-
Gaedigk, A.1
Ndjountché, L.2
Divakaran, K.3
DiAnne Bradford, L.4
Zineh, I.5
Oberlander, T.F.6
Brousseau, D.C.7
McCarver, D.G.8
Johnson, J.A.9
Alander, S.W.10
Wayne Riggs, K.11
Steven Leeder, J.12
-
14
-
-
38349132802
-
The CYP2D6 activity score: translating genotype information into a qualitative measure of phenotype
-
Gaedigk A, Simon SD, Pearce RE, Bradford LD, Kennedy MJ, Leeder JS. 2008. The CYP2D6 activity score: translating genotype information into a qualitative measure of phenotype. Clin Pharmacol Ther 83:234–242.
-
(2008)
Clin Pharmacol Ther
, vol.83
, pp. 234-242
-
-
Gaedigk, A.1
Simon, S.D.2
Pearce, R.E.3
Bradford, L.D.4
Kennedy, M.J.5
Leeder, J.S.6
-
15
-
-
79953715693
-
Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel
-
González-Pérez A, López-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
-
-
González-Pérez, A.1
López-Bigas, N.2
-
16
-
-
84896355622
-
Challenges in CYP2D6 phenotype assignment from genotype data: a critical assessment and call for standardization
-
Hicks JK, Swen JJ, Gaedigk A. 2014. Challenges in CYP2D6 phenotype assignment from genotype data: a critical assessment and call for standardization. Curr Drug Metab 15:218–232.
-
(2014)
Curr Drug Metab
, vol.15
, pp. 218-232
-
-
Hicks, J.K.1
Swen, J.J.2
Gaedigk, A.3
-
17
-
-
84962394091
-
Pharmacogenetic allele nomenclature: international workgroup recommendations for test result reporting
-
Kalman LV, Agúndez J, Appell ML, Black JL, Bell GC, Boukouvala S, Bruckner C, Bruford E, Caudle K, Coulthard SA, Daly AK, del Tredici A, et al. 2016. Pharmacogenetic allele nomenclature: international workgroup recommendations for test result reporting. Clin Pharmacol Ther 99:172–185.
-
(2016)
Clin Pharmacol Ther
, vol.99
, pp. 172-185
-
-
Kalman, L.V.1
Agúndez, J.2
Appell, M.L.3
Black, J.L.4
Bell, G.C.5
Boukouvala, S.6
Bruckner, C.7
Bruford, E.8
Caudle, K.9
Coulthard, S.A.10
Daly, A.K.11
del Tredici, A.12
-
18
-
-
68149165614
-
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
-
Kumar P, Henikoff S, Ng PC. 2009. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 4:1073–1081.
-
(2009)
Nat Protoc
, vol.4
, pp. 1073-1081
-
-
Kumar, P.1
Henikoff, S.2
Ng, P.C.3
-
19
-
-
80054915847
-
A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data
-
Li H. 2011. A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data. Bioinformatics 27:2987–2993.
-
(2011)
Bioinformatics
, vol.27
, pp. 2987-2993
-
-
Li, H.1
-
20
-
-
68549104404
-
The sequence alignment/map format and SAMtools
-
Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, Marth G, Abecasis G, Durbin R, Subgroup 1000 Genome Project Data Processing. 2009. The sequence alignment/map format and SAMtools. Bioinformatics 25:2078–2079.
-
(2009)
Bioinformatics
, vol.25
, pp. 2078-2079
-
-
Li, H.1
Handsaker, B.2
Wysoker, A.3
Fennell, T.4
Ruan, J.5
Homer, N.6
Marth, G.7
Abecasis, G.8
Durbin, R.9
-
21
-
-
0017695082
-
Polymorphic hydroxylation of debrisoquine in man
-
Mahgoub A, Dring LG, Idle JR, Lancaster R, Smith RL. 1977. Polymorphic hydroxylation of debrisoquine in man. Lancet 310:584–586.
-
(1977)
Lancet
, vol.310
, pp. 584-586
-
-
Mahgoub, A.1
Dring, L.G.2
Idle, J.R.3
Lancaster, R.4
Smith, R.L.5
-
22
-
-
80255127234
-
Cutadapt removes adapter sequences from high-throughput sequencing reads
-
Martin M. 2011. Cutadapt removes adapter sequences from high-throughput sequencing reads. EMBnet.journal 17:10–12.
-
(2011)
EMBnet.journal
, vol.17
, pp. 10-12
-
-
Martin, M.1
-
23
-
-
84901410645
-
Choice of transcripts and software has a large effect on variant annotation
-
McCarthy DJ, Humburg P, Kanapin A, Rivas MA, Gaulton K, Cazier J-B, Donnelly P. 2014. Choice of transcripts and software has a large effect on variant annotation. Genome Med 6:1–16.
-
(2014)
Genome Med
, vol.6
, pp. 1-16
-
-
McCarthy, D.J.1
Humburg, P.2
Kanapin, A.3
Rivas, M.A.4
Gaulton, K.5
Cazier, J.-B.6
Donnelly, P.7
-
25
-
-
75549086408
-
SuperCYP: a comprehensive database on cytochrome P450 enzymes including a tool for analysis of CYP-drug interactions
-
Preissner S, Kroll K, Dunkel M, Senger C, Goldsobel G, Kuzman D, Guenther S, Winnenburg R, Schroeder M, Preissner R. 2010. SuperCYP: a comprehensive database on cytochrome P450 enzymes including a tool for analysis of CYP-drug interactions. Nucleic Acids Res 38:D237–D243.
-
(2010)
Nucleic Acids Res
, vol.38
, pp. D237-D243
-
-
Preissner, S.1
Kroll, K.2
Dunkel, M.3
Senger, C.4
Goldsobel, G.5
Kuzman, D.6
Guenther, S.7
Winnenburg, R.8
Schroeder, M.9
Preissner, R.10
-
26
-
-
84957970833
-
Long-read single molecule real-time full gene sequencing of cytochrome P450-2D6
-
Qiao W, Yang Y, Sebra R, Mendiratta G, Gaedigk A, Desnick RJ, Scott SA. 2016. Long-read single molecule real-time full gene sequencing of cytochrome P450-2D6. Hum Mutat 37:315–323.
-
(2016)
Hum Mutat
, vol.37
, pp. 315-323
-
-
Qiao, W.1
Yang, Y.2
Sebra, R.3
Mendiratta, G.4
Gaedigk, A.5
Desnick, R.J.6
Scott, S.A.7
-
27
-
-
59149096567
-
The AmpliChip CYP450 test: cytochrome P450 2D6 genotype assessment and phenotype prediction
-
Rebsamen MC, Desmeules J, Daali Y, Chiappe A, Diemand A, Rey C, Chabert J, Dayer P, Hochstrasser D, Rossier MF. 2008. The AmpliChip CYP450 test: cytochrome P450 2D6 genotype assessment and phenotype prediction. Pharmacogenomics J 9:34–41.
-
(2008)
Pharmacogenomics J
, vol.9
, pp. 34-41
-
-
Rebsamen, M.C.1
Desmeules, J.2
Daali, Y.3
Chiappe, A.4
Diemand, A.5
Rey, C.6
Chabert, J.7
Dayer, P.8
Hochstrasser, D.9
Rossier, M.F.10
-
28
-
-
43949120461
-
Association of graded allele-specific changes in CYP2D6 function with imipramine dose requirement in a large group of depressed patients
-
Schenk PW, van Fessem MAC, Verploegh-Van Rij S, Mathot RAA, van Gelder T, Vulto AG, van Vliet M, Lindemans J, Bruijn JA, van Schaik RHN. 2007. Association of graded allele-specific changes in CYP2D6 function with imipramine dose requirement in a large group of depressed patients. Mol Psychiatry 13:597–605.
-
(2007)
Mol Psychiatry
, vol.13
, pp. 597-605
-
-
Schenk, P.W.1
van Fessem, M.A.C.2
Verploegh-Van Rij, S.3
Mathot, R.A.A.4
van Gelder, T.5
Vulto, A.G.6
van Vliet, M.7
Lindemans, J.8
Bruijn, J.A.9
van Schaik, R.H.N.10
-
29
-
-
85027954420
-
The Human Cytochrome P450 (CYP) Allele Nomenclature website: a peer-reviewed database of CYP variants and their associated effects
-
Sim SC, Ingelman-Sundberg M. 2010. The Human Cytochrome P450 (CYP) Allele Nomenclature website: a peer-reviewed database of CYP variants and their associated effects. Hum Genomics 4:278.
-
(2010)
Hum Genomics
, vol.4
, pp. 278
-
-
Sim, S.C.1
Ingelman-Sundberg, M.2
-
30
-
-
84882989719
-
Update on allele nomenclature for human cytochromes P450 and the Human Cytochrome P450 Allele (CYP-allele) Nomenclature Database
-
Sim SC, Ingelman-Sundberg M. 2013. Update on allele nomenclature for human cytochromes P450 and the Human Cytochrome P450 Allele (CYP-allele) Nomenclature Database. Methods Mol Biol 987:251–259.
-
(2013)
Methods Mol Biol
, vol.987
, pp. 251-259
-
-
Sim, S.C.1
Ingelman-Sundberg, M.2
-
31
-
-
85012090045
-
-
Accessed at
-
The Netherlands Trial Register 1509. Accessed at: http://www.trialregister.nl/trialreg/admin/rctview.asp?TC=1509.
-
-
-
-
32
-
-
77956125365
-
A flexible and efficient template format for circular consensus sequencing and SNP detection
-
Travers KJ, Chin C-S, Rank DR, Eid JS, Turner SW. 2010. A flexible and efficient template format for circular consensus sequencing and SNP detection. Nucleic Acids Res 38:e159–e159.
-
(2010)
Nucleic Acids Res
, vol.38
, pp. e159
-
-
Travers, K.J.1
Chin, C.-S.2
Rank, D.R.3
Eid, J.S.4
Turner, S.W.5
-
33
-
-
85009182671
-
Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences
-
Twist GP, Gaedigk A, Miller NA, Farrow EG, Willig LK, Dinwiddie DL, Petrikin JE, Soden SE, Herd S, Gibson M, Cakici JA, Riffel AK, et al. 2016. Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences. NPJ Genomic Med 1:15007.
-
(2016)
NPJ Genomic Med
, vol.1
, pp. 15007
-
-
Twist, G.P.1
Gaedigk, A.2
Miller, N.A.3
Farrow, E.G.4
Willig, L.K.5
Dinwiddie, D.L.6
Petrikin, J.E.7
Soden, S.E.8
Herd, S.9
Gibson, M.10
Cakici, J.A.11
Riffel, A.K.12
-
34
-
-
3543078018
-
AutoGenomics, Inc
-
Vairavan R. 2004. AutoGenomics, Inc. Pharmacogenomics 5:585–588.
-
(2004)
Pharmacogenomics
, vol.5
, pp. 585-588
-
-
Vairavan, R.1
-
35
-
-
84866611528
-
Pharmacogenomics knowledge for personalized medicine
-
Whirl-Carrillo M, McDonagh EM, Hebert JM, Gong L, Sangkuhl K, Thorn CF, Altman RB, Klein TE. 2012. Pharmacogenomics knowledge for personalized medicine. Clin Pharmacol Ther 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
Altman, R.B.7
Klein, T.E.8
-
36
-
-
38149063754
-
Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker
-
Wildeman M, van Ophuizen E, den Dunnen JT, Taschner PEM. 2008. Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker. Hum Mutat 29:6–13.
-
(2008)
Hum Mutat
, vol.29
, pp. 6-13
-
-
Wildeman, M.1
van Ophuizen, E.2
den Dunnen, J.T.3
Taschner, P.E.M.4
|