-
1
-
-
0001641514
-
Mutations of bacteria from virus sensitivity to virus resistance
-
Luria SE, Delbrück M (1943) Mutations of bacteria from virus sensitivity to virus resistance. Genetics 28:491-511.
-
(1943)
Genetics
, vol.28
, pp. 491-511
-
-
Luria, S.E.1
Delbrück, M.2
-
2
-
-
77951799158
-
Analysis of genetic inheritance in a family quartet by whole-genome sequencing
-
Roach JC, et al. (2010) Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science 328:636-639.
-
(2010)
Science
, vol.328
, pp. 636-639
-
-
Roach, J.C.1
-
3
-
-
84975742565
-
A map of human genome variation from population-scale sequencing
-
1000 Genomes Project Consortium
-
Durbin RM, et al.; 1000 Genomes Project Consortium (2010) A map of human genome variation from population-scale sequencing. Nature 467:1061-1073.
-
(2010)
Nature
, vol.467
, pp. 1061-1073
-
-
Durbin, R.M.1
-
4
-
-
79251585968
-
Mutation and epigenetic molecular clocks in cancer
-
Shibata D (2011) Mutation and epigenetic molecular clocks in cancer. Carcinogenesis 32:123-128.
-
(2011)
Carcinogenesis
, vol.32
, pp. 123-128
-
-
Shibata, D.1
-
5
-
-
34250722018
-
The HBV drug entecavir - Effects on HIV-1 replication and resistance
-
DOI 10.1056/NEJMoa067710
-
McMahon MA, et al. (2007) The HBV drug entecavir - effects on HIV-1 replication and resistance. N Engl J Med 356:2614-2621. (Pubitemid 46961006)
-
(2007)
New England Journal of Medicine
, vol.356
, Issue.25
, pp. 2614-2621
-
-
McMahon, M.A.1
Jilek, B.L.2
Brennan, T.P.3
Shen, L.4
Zhou, Y.5
Wind-Rotolo, M.6
Xing, S.7
Bhat, S.8
Hale, B.9
Hegarty, R.10
Chong, C.R.11
Liu, J.O.12
Siliciano, R.F.13
Thio, C.L.14
-
6
-
-
0031912007
-
Maternal viral genotypic zidovudine resistance and infrequent failure of zidovudine therapy to prevent perinatal transmission of human immunodeficiency virus type 1 in Pediatric AIDS Clinical Trials Group protocol 076
-
Eastman PS, et al. (1998) Maternal viral genotypic zidovudine resistance and infrequent failure of zidovudine therapy to prevent perinatal transmission of human immunodeficiency virus type 1 in pediatric AIDS Clinical Trials Group Protocol 076. J Infect Dis 177:557-564. (Pubitemid 28099867)
-
(1998)
Journal of Infectious Diseases
, vol.177
, Issue.3
, pp. 557-564
-
-
Eastman, P.S.1
Shapiro, D.E.2
Coombs, R.W.3
Frenkel, L.M.4
McSherry, G.D.5
Britto, P.6
Herman, S.A.7
Sperling, R.S.8
-
7
-
-
58149490683
-
Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma
-
Chiu RW, et al. (2008) Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc Natl Acad Sci USA 105:20458-20463.
-
(2008)
Proc Natl Acad Sci USA
, vol.105
, pp. 20458-20463
-
-
Chiu, R.W.1
-
8
-
-
55849124028
-
Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood
-
Fan HC, Blumenfeld YJ, Chitkara U, Hudgins L, Quake SR (2008) Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Natl Acad Sci USA 105:16266-16271.
-
(2008)
Proc Natl Acad Sci USA
, vol.105
, pp. 16266-16271
-
-
Fan, H.C.1
Blumenfeld, Y.J.2
Chitkara, U.3
Hudgins, L.4
Quake, S.R.5
-
9
-
-
0141508014
-
High-throughput molecular analysis of urine sediment for the detection of bladder cancer by high-density single-nucleotide polymorphism array
-
Hoque MO, et al. (2003) High-throughput molecular analysis of urine sediment for the detection of bladder cancer by high-density single-nucleotide polymorphism array. Cancer Res 63:5723-5726. (Pubitemid 37187467)
-
(2003)
Cancer Research
, vol.63
, Issue.18
, pp. 5723-5726
-
-
Hoque, M.O.1
Lee, J.2
Begum, S.3
Yamashita, K.4
Engles, J.M.5
Schoenberg, M.6
Westra, W.H.7
Sidransky, D.8
-
10
-
-
0242408197
-
Sputum examination for early detection of lung cancer
-
Thunnissen FB (2003) Sputum examination for early detection of lung cancer. J Clin Pathol 56:805-810.
-
(2003)
J Clin Pathol
, vol.56
, pp. 805-810
-
-
Thunnissen, F.B.1
-
11
-
-
48549105413
-
Analysis of mutations in DNA isolated from plasma and stool of colorectal cancer patients
-
Diehl F, et al. (2008) Analysis of mutations in DNA isolated from plasma and stool of colorectal cancer patients. Gastroenterology 135:489-498.
-
(2008)
Gastroenterology
, vol.135
, pp. 489-498
-
-
Diehl, F.1
-
12
-
-
0026534432
-
The fidelity of Taq polymerase catalyzing PCR is improved by an Nterminal deletion
-
Barnes WM (1992) The fidelity of Taq polymerase catalyzing PCR is improved by an Nterminal deletion. Gene 112:29-35.
-
(1992)
Gene
, vol.112
, pp. 29-35
-
-
Barnes, W.M.1
-
13
-
-
24944581966
-
A quantitative measurement of the human somatic mutation rate
-
DOI 10.1158/0008-5472.CAN-04-1198
-
Araten DJ, et al. (2005) A quantitative measurement of the human somatic mutation rate. Cancer Res 65:8111-8117. (Pubitemid 41330573)
-
(2005)
Cancer Research
, vol.65
, Issue.18
, pp. 8111-8117
-
-
Araten, D.J.1
Golde, D.W.2
Zhang, R.H.3
Thaler, H.T.4
Gargiulo, L.5
Notaro, R.6
Luzzatto, L.7
-
14
-
-
0031702639
-
No difference in stem cell somatic mutation between the background mucosa of right- and left-sided sporadic colorectal carcinomas
-
Campbell F, Appleton MA, Shields CJ, Williams GT (1998) No difference in stem cell somatic mutation between the background mucosa of right- and left-sided sporadic colorectal carcinomas. J Pathol 186:31-35.
-
(1998)
J Pathol
, vol.186
, pp. 31-35
-
-
Campbell, F.1
Appleton, M.A.2
Shields, C.J.3
Williams, G.T.4
-
15
-
-
0024282746
-
Fidelity of DNA synthesis by the Thermus aquaticus DNA polymerase
-
Tindall KR, Kunkel TA (1988) Fidelity of DNA synthesis by the Thermus aquaticus DNA polymerase. Biochemistry 27:6008-6013.
-
(1988)
Biochemistry
, vol.27
, pp. 6008-6013
-
-
Tindall, K.R.1
Kunkel, T.A.2
-
16
-
-
0021872030
-
The mutational specificity of DNA polymerase-beta during in vitro DNA synthesis. Production of frameshift, base substitution, and deletion mutations
-
Kunkel TA (1985) The mutational specificity of DNA polymerase-beta during in vitro DNA synthesis. Production of frameshift, base substitution, and deletion mutations. J Biol Chem 260:5787-5796.
-
(1985)
J Biol Chem
, vol.260
, pp. 5787-5796
-
-
Kunkel, T.A.1
-
17
-
-
0025843638
-
Analysis of immunoglobulin and T cell receptor genes. Part II: Possibilities and limitations in the diagnosis and management of lymphoproliferative diseases and related disorders
-
van Dongen JJ, Wolvers-Tettero IL (1991) Analysis of immunoglobulin and T cell receptor genes. Part II: Possibilities and limitations in the diagnosis and management of lymphoproliferative diseases and related disorders. Clin Chim Acta 198:93-174.
-
(1991)
Clin Chim Acta
, vol.198
, pp. 93-174
-
-
Van Dongen, J.J.1
Wolvers-Tettero, I.L.2
-
18
-
-
0026603009
-
In vivo human somatic mutation: Frequency and spectrum with age
-
Grist SA, McCarron M, Kutlaca A, Turner DR, Morley AA (1992) In vivo human somatic mutation: Frequency and spectrum with age. Mutat Res 266:189-196.
-
(1992)
Mutat Res
, vol.266
, pp. 189-196
-
-
Grist, S.A.1
McCarron, M.2
Kutlaca, A.3
Turner, D.R.4
Morley, A.A.5
-
19
-
-
0347915683
-
Detection of extremely rare alleles by bidirectional pyrophosphorolysis- activated polymerization allele-specific amplification (Bi-PAP-A): Measurement of mutation load in mammalian tissues
-
Liu Q, Sommer SS (2004) Detection of extremely rare alleles by bidirectional pyrophosphorolysis-activated polymerization allele-specific amplification (Bi-PAP-A): Measurement of mutation load in mammalian tissues. Biotechniques 36:156-166. (Pubitemid 38076394)
-
(2004)
BioTechniques
, vol.36
, Issue.1
, pp. 156-166
-
-
Liu, Q.1
Sommer, S.S.2
-
20
-
-
0021909244
-
Nucleotide sequence preservation of human mitochondrial DNA
-
Monnat RJ, Jr., Loeb LA (1985) Nucleotide sequence preservation of human mitochondrial DNA. Proc Natl Acad Sci USA 82:2895-2899.
-
(1985)
Proc Natl Acad Sci USA
, vol.82
, pp. 2895-2899
-
-
Monnat Jr., R.J.1
Loeb, L.A.2
-
21
-
-
13844304889
-
LigAmp for sensitive detection of single-nucleotide differences
-
Shi C, et al. (2004) LigAmp for sensitive detection of single-nucleotide differences. Nat Methods 1:141-147.
-
(2004)
Nat Methods
, vol.1
, pp. 141-147
-
-
Shi, C.1
-
23
-
-
0025782858
-
Identification of p53 gene mutations in bladder cancers and urine samples
-
Sidransky D, et al. (1991) Identification of p53 gene mutations in bladder cancers and urine samples. Science 252:706-709. (Pubitemid 21916998)
-
(1991)
Science
, vol.252
, Issue.5006
, pp. 706-709
-
-
Sidransky, D.1
Von Eschenbach, A.2
Tsai, Y.C.3
Jones, P.4
Summerhayes, I.5
Marshall, F.6
Paul, M.7
Green, P.8
Hamilton, S.R.9
Frost, P.10
Vogelstein, B.11
-
24
-
-
18744416025
-
Quantification of random genomic mutations
-
Bielas JH, Loeb LA (2005) Quantification of random genomic mutations. Nat Methods 2:285-290.
-
(2005)
Nat Methods
, vol.2
, pp. 285-290
-
-
Bielas, J.H.1
Loeb, L.A.2
-
26
-
-
0038285034
-
Digital genotyping and haplotyping with polymerase colonies
-
DOI 10.1073/pnas.0936399100
-
Mitra RD, et al. (2003) Digital genotyping and haplotyping with polymerase colonies. Proc Natl Acad Sci USA 100:5926-5931. (Pubitemid 36576909)
-
(2003)
Proceedings of the National Academy of Sciences of the United States of America
, vol.100
, Issue.10
, pp. 5926-5931
-
-
Mitra, R.D.1
Butty, V.L.2
Shendure, J.3
Williams, B.R.4
Housman, D.E.5
Church, G.M.6
-
27
-
-
0036073952
-
Molecular colony diagnostics: Detection and quantitation of viral nucleic acids by in-gel PCR
-
Chetverina HV, Samatov TR, Ugarov VI, Chetverin AB (2002) Molecular colony diagnostics: Detection and quantitation of viral nucleic acids by in-gel PCR. Biotechniques 33:150-152, 154, 156.
-
(2002)
Biotechniques
, vol.33
-
-
Chetverina, H.V.1
Samatov, T.R.2
Ugarov, V.I.3
Chetverin, A.B.4
-
28
-
-
57149104184
-
Digital PCR: A powerful new tool for noninvasive prenatal diagnosis?
-
Zimmermann BG, et al. (2008) Digital PCR: A powerful new tool for noninvasive prenatal diagnosis? Prenat Diagn 28:1087-1093.
-
(2008)
Prenat Diagn
, vol.28
, pp. 1087-1093
-
-
Zimmermann, B.G.1
-
29
-
-
0042307371
-
Transforming single DNA molecules into fluorescent magnetic particles for detection and enumeration of genetic variations
-
DOI 10.1073/pnas.1133470100
-
Dressman D, Yan H, Traverso G, Kinzler KW, Vogelstein B (2003) Transforming single DNA molecules into fluorescent magnetic particles for detection and enumeration of genetic variations. Proc Natl Acad Sci USA 100:8817-8822. (Pubitemid 36899181)
-
(2003)
Proceedings of the National Academy of Sciences of the United States of America
, vol.100
, Issue.15
, pp. 8817-8822
-
-
Dressman, D.1
Yan, H.2
Traverso, G.3
Kinzler, K.W.4
Vogelstein, B.5
-
30
-
-
33845342557
-
Microfluidic digital PCR enables multigene analysis of individual environmental bacteria
-
DOI 10.1126/science.1131370
-
Ottesen EA, Hong JW, Quake SR, Leadbetter JR (2006) Microfluidic digital PCR enables multigene analysis of individual environmental bacteria. Science 314:1464-1467. (Pubitemid 44871954)
-
(2006)
Science
, vol.314
, Issue.5804
, pp. 1464-1467
-
-
Ottesen, E.A.1
Jong, W.H.2
Quake, S.R.3
Leadbetter, J.R.4
-
31
-
-
57049122389
-
A large genome center's improvements to the Illumina sequencing system
-
Quail MA, et al. (2008) A large genome center's improvements to the Illumina sequencing system. Nat Methods 5:1005-1010.
-
(2008)
Nat Methods
, vol.5
, pp. 1005-1010
-
-
Quail, M.A.1
-
32
-
-
78650303507
-
Melanomas acquire resistance to B-RAF(V600E) inhibition by RTK or N-RAS upregulation
-
Nazarian R, et al. (2010) Melanomas acquire resistance to B-RAF(V600E) inhibition by RTK or N-RAS upregulation. Nature 468:973-977.
-
(2010)
Nature
, vol.468
, pp. 973-977
-
-
Nazarian, R.1
-
33
-
-
77950083955
-
Heteroplasmic mitochondrial DNA mutations in normal and tumour cells
-
He Y, et al. (2010) Heteroplasmic mitochondrial DNA mutations in normal and tumour cells. Nature 464:610-614.
-
(2010)
Nature
, vol.464
, pp. 610-614
-
-
He, Y.1
-
34
-
-
79952258224
-
Somatic coding mutations in human induced pluripotent stem cells
-
Gore A, et al. (2011) Somatic coding mutations in human induced pluripotent stem cells. Nature 471:63-67.
-
(2011)
Nature
, vol.471
, pp. 63-67
-
-
Gore, A.1
-
35
-
-
52649157765
-
Substantial biases in ultra-short read data sets from high-throughput DNA sequencing
-
Dohm JC, Lottaz C, Borodina T, Himmelbauer H (2008) Substantial biases in ultra-short read data sets from high-throughput DNA sequencing. Nucleic Acids Res 36:e105.
-
(2008)
Nucleic Acids Res
, vol.36
-
-
Dohm, J.C.1
Lottaz, C.2
Borodina, T.3
Himmelbauer, H.4
-
36
-
-
48449094744
-
Alta-Cyclic: A self-optimizing base caller for next-generation sequencing
-
Erlich Y, Mitra PP, delaBastide M, McCombie WR, Hannon GJ (2008) Alta-Cyclic: A self-optimizing base caller for next-generation sequencing. Nat Methods 5:679-682.
-
(2008)
Nat Methods
, vol.5
, pp. 679-682
-
-
Erlich, Y.1
Mitra, P.P.2
DelaBastide, M.3
McCombie, W.R.4
Hannon, G.J.5
-
37
-
-
55049090961
-
Probabilistic base calling of Solexa sequencing data
-
Rougemont J, et al. (2008) Probabilistic base calling of Solexa sequencing data. BMC Bioinformatics 9:431.
-
(2008)
BMC Bioinformatics
, vol.9
, pp. 431
-
-
Rougemont, J.1
-
38
-
-
63949086651
-
Quantification of rare allelic variants from pooled genomic DNA
-
Druley TE, et al. (2009) Quantification of rare allelic variants from pooled genomic DNA. Nat Methods 6:263-265.
-
(2009)
Nat Methods
, vol.6
, pp. 263-265
-
-
Druley, T.E.1
-
39
-
-
78650037265
-
High-throughput discovery of rare insertions and deletions in large cohorts
-
Vallania FL, et al. (2010) High-throughput discovery of rare insertions and deletions in large cohorts. Genome Res 20:1711-1718.
-
(2010)
Genome Res
, vol.20
, pp. 1711-1718
-
-
Vallania, F.L.1
-
40
-
-
36849060549
-
Encoding PCR products with batch-stamps and barcodes
-
DOI 10.1007/s10528-007-9114-x
-
McCloskey ML, Stöger R, Hansen RS, Laird CD (2007) Encoding PCR products with batch-stamps and barcodes. Biochem Genet 45:761-767. (Pubitemid 350233999)
-
(2007)
Biochemical Genetics
, vol.45
, Issue.11-12
, pp. 761-767
-
-
McCloskey, M.L.1
Stoger, R.2
Hansen, R.S.3
Laird, C.D.4
-
41
-
-
36148937913
-
A pyrosequencing-tailored nucleotide barcode design unveils opportunities for large-scale sample multiplexing
-
Parameswaran P, et al. (2007) A pyrosequencing-tailored nucleotide barcode design unveils opportunities for large-scale sample multiplexing. Nucleic Acids Res 35:e130.
-
(2007)
Nucleic Acids Res
, vol.35
-
-
Parameswaran, P.1
-
42
-
-
53249132629
-
Identification of genetic variants using bar-coded multiplexed sequencing
-
Craig DW, et al. (2008) Identification of genetic variants using bar-coded multiplexed sequencing. Nat Methods 5:887-893.
-
(2008)
Nat Methods
, vol.5
, pp. 887-893
-
-
Craig, D.W.1
-
43
-
-
19444379602
-
Molecular barcodes detect redundancy and contamination in hairpin-bisulfite PCR
-
Miner BE, Stöger RJ, Burden AF, Laird CD, Hansen RS (2004) Molecular barcodes detect redundancy and contamination in hairpin-bisulfite PCR. Nucleic Acids Res 32:e135.
-
(2004)
Nucleic Acids Res
, vol.32
-
-
Miner, B.E.1
Stöger, R.J.2
Burden, A.F.3
Laird, C.D.4
Hansen, R.S.5
-
44
-
-
67649631522
-
Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection
-
Herman DS, et al. (2009) Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection. Nat Methods 6:507-510.
-
(2009)
Nat Methods
, vol.6
, pp. 507-510
-
-
Herman, D.S.1
-
45
-
-
33847065486
-
The epigenomics of cancer
-
Jones PA, Baylin SB (2007) The epigenomics of cancer. Cell 128:683-692.
-
(2007)
Cell
, vol.128
, pp. 683-692
-
-
Jones, P.A.1
Baylin, S.B.2
-
46
-
-
0023959271
-
An in vitro assay for frameshift mutations: Hotspots for deletions of 1 bp by Klenow-fragment polymerase share a consensus DNA sequence
-
de Boer JG, Ripley LS (1988) An in vitro assay for frameshift mutations: Hotspots for deletions of 1 bp by Klenow-fragment polymerase share a consensus DNA sequence. Genetics 118:181-191.
-
(1988)
Genetics
, vol.118
, pp. 181-191
-
-
De Boer, J.G.1
Ripley, L.S.2
-
47
-
-
0025315366
-
High fidelity DNA synthesis by the Thermus aquaticus DNA polymerase
-
Eckert KA, Kunkel TA (1990) High fidelity DNA synthesis by the Thermus aquaticus DNA polymerase. Nucleic Acids Res 18:3739-3744.
-
(1990)
Nucleic Acids Res
, vol.18
, pp. 3739-3744
-
-
Eckert, K.A.1
Kunkel, T.A.2
-
48
-
-
78650021707
-
Scalable gene synthesis by selective amplification of DNA pools from high-fidelity microchips
-
Kosuri S, et al. (2010) Scalable gene synthesis by selective amplification of DNA pools from high-fidelity microchips. Nat Biotechnol 28:1295-1299.
-
(2010)
Nat Biotechnol
, vol.28
, pp. 1295-1299
-
-
Kosuri, S.1
-
49
-
-
78650023082
-
High-fidelity gene synthesis by retrieval of sequence-verified DNA identified using high-throughput pyrosequencing
-
Matzas M, et al. (2010) High-fidelity gene synthesis by retrieval of sequence-verified DNA identified using high-throughput pyrosequencing. Nat Biotechnol 28:1291-1294.
-
(2010)
Nat Biotechnol
, vol.28
, pp. 1291-1294
-
-
Matzas, M.1
-
50
-
-
43249116705
-
Replacing PCR with COLD-PCR enriches variant DNA sequences and redefines the sensitivity of genetic testing
-
DOI 10.1038/nm1708, PII NM1708
-
Li J, et al. (2008) Replacing PCR with COLD-PCR enriches variant DNA sequences and redefines the sensitivity of genetic testing. Nat Med 14:579-584. (Pubitemid 351655208)
-
(2008)
Nature Medicine
, vol.14
, Issue.5
, pp. 579-584
-
-
Li, J.1
Wang, L.2
Mamon, H.3
Kulke, M.H.4
Berbeco, R.5
Makrigiorgos, G.M.6
-
51
-
-
58149234737
-
Real-time DNA sequencing from single polymerase molecules
-
Eid J, et al. (2009) Real-time DNA sequencing from single polymerase molecules. Science 323:133-138.
-
(2009)
Science
, vol.323
, pp. 133-138
-
-
Eid, J.1
|