-
1
-
-
57649243614
-
Genome-based prediction of common diseases: Advances and prospects
-
Janssens A. C., van Duijn C. M., Genome-based prediction of common diseases: advances and prospects Human Molecular Genetics 2008 17 2 R166 R173
-
(2008)
Human Molecular Genetics
, vol.17
, Issue.2
-
-
Janssens, A.C.1
Van Duijn, C.M.2
-
2
-
-
77954407332
-
Genomewide association studies and assessment of the risk of disease
-
Manolio T. A., Genomewide association studies and assessment of the risk of disease The New England Journal of Medicine 2010 363 2 166 176
-
(2010)
The New England Journal of Medicine
, vol.363
, Issue.2
, pp. 166-176
-
-
Manolio, T.A.1
-
3
-
-
77953151341
-
Pathway analysis of breast cancer genome-wide association study highlights three pathways and one canonical signaling cascade
-
Menashe I., Maeder D., Garcia-Closas M., Figueroa J. D., Bhattacharjee S., Rotunno M., Kraft P., Hunter D. J., Chanock S. J., Rosenberg P. S., Chatterjee N., Pathway analysis of breast cancer genome-wide association study highlights three pathways and one canonical signaling cascade Cancer Research 2010 70 11 4453 4459
-
(2010)
Cancer Research
, vol.70
, Issue.11
, pp. 4453-4459
-
-
Menashe, I.1
Maeder, D.2
Garcia-Closas, M.3
Figueroa, J.D.4
Bhattacharjee, S.5
Rotunno, M.6
Kraft, P.7
Hunter, D.J.8
Chanock, S.J.9
Rosenberg, P.S.10
Chatterjee, N.11
-
4
-
-
77949578084
-
Performance of common genetic variants in breast-cancer risk models
-
Wacholder S., Performance of common genetic variants in breast-cancer risk models The New England Journal of Medicine 2010 362 11 986 993
-
(2010)
The New England Journal of Medicine
, vol.362
, Issue.11
, pp. 986-993
-
-
Wacholder, S.1
-
5
-
-
77950461601
-
Origins and functional impact of copy number variation in the human genome
-
Conrad D. F., Pinto D., Redon R., Feuk L., Gokcumen O., Zhang Y., Aerts J., Andrews T. D., Barnes C., Campbell P., Fitzgerald T., Hu M., Ihm C. H., Kristiansson K., MacArthur D. G., MacDonald J. R., Onyiah I., Pang A. W. C., Robson S., Stirrups K., Valsesia A., Walter K., Wei J., Tyler-Smith C., Carter N. P., Lee C., Scherer S. W., Hurles M. E., Origins and functional impact of copy number variation in the human genome Nature 2010 464 7289 704 712
-
(2010)
Nature
, vol.464
, Issue.7289
, 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.C.18
Robson, S.19
Stirrups, K.20
Valsesia, A.21
Walter, K.22
Wei, J.23
Tyler-Smith, C.24
Carter, N.P.25
Lee, C.26
Scherer, S.W.27
Hurles, M.E.28
more..
-
6
-
-
58849144734
-
DNA variations in human and medical genetics: 25 years of my experience
-
Nakamura Y., DNA variations in human and medical genetics: 25 years of my experience Journal of Human Genetics 2009 54 1 1 8
-
(2009)
Journal of Human Genetics
, vol.54
, Issue.1
, pp. 1-8
-
-
Nakamura, Y.1
-
7
-
-
35648976118
-
The diploid genome sequence of an individual human
-
Levy S., The diploid genome sequence of an individual human PLoS Biology 2007 5 10, article e254
-
(2007)
PLoS Biology
, vol.5
, Issue.10
-
-
Levy, S.1
-
8
-
-
0036678354
-
ShiftDetector: Detection of shift mutations
-
Seroussi E., Ron M., Kedra D., ShiftDetector: detection of shift mutations Bioinformatics 2002 18 8 1137 1138 (Pubitemid 34919237)
-
(2002)
Bioinformatics
, vol.18
, Issue.8
, pp. 1137-1138
-
-
Seroussi, E.1
Ron, M.2
Kedra, D.3
-
9
-
-
48249149566
-
Decoding of superimposed traces produced by direct sequencing of heterozygous indels
-
Dmitriev D. A., Rakitov R. A., Decoding of superimposed traces produced by direct sequencing of heterozygous indels PLoS Computational Biology 2008 4 7
-
(2008)
PLoS Computational Biology
, vol.4
, Issue.7
-
-
Dmitriev, D.A.1
Rakitov, R.A.2
-
11
-
-
79954622191
-
CHILD: A new tool for detecting low-abundance insertions and deletions in standard sequence traces
-
Zhidkov I., Cohen R., Geifman N., Mishmar D., Rubin E., CHILD: a new tool for detecting low-abundance insertions and deletions in standard sequence traces Nucleic Acids Research 2011 39 7, article e47
-
(2011)
Nucleic Acids Research
, vol.39
, Issue.7
-
-
Zhidkov, I.1
Cohen, R.2
Geifman, N.3
Mishmar, D.4
Rubin, E.5
-
12
-
-
0035892711
-
STR primer concordance study
-
DOI 10.1016/S0379-0738(01)00563-1, PII S0379073801005631
-
Budowle B., Masibay A., Anderson S. J., Barna C., Biega L., Brenneke S., Brown B. L., Cramer J., DeGroot G. A., Douglas D., Duceman B., Eastman A., Giles R., Hamill J., Haase D. J., Janssen D. W., Kupferschmid T. D., Lawton T., Lemire C., Llewellyn B., Moretti T., Neves J., Palaski C., Schueler S., Sgueglia J., Sprecher C., Tomsey C., Yet D., STR primer concordance study Forensic Science International 2001 124 1 47 54 (Pubitemid 33123361)
-
(2001)
Forensic Science International
, vol.124
, Issue.1
, pp. 47-54
-
-
Budowle, B.1
Masibay, A.2
Anderson, S.J.3
Barna, C.4
Biega, L.5
Brenneke, S.6
Brown, B.L.7
Cramer, J.8
DeGroot, G.A.9
Douglas, D.10
Duceman, B.11
Eastman, A.12
Giles, R.13
Hamill, J.14
Haase, D.J.15
Janssen, D.W.16
Kupferschmid, T.D.17
Lawton, T.18
Lemire, C.19
Llewellyn, B.20
Moretti, T.21
Neves, J.22
Palaski, C.23
Schueler, S.24
Sgueglia, J.25
Sprecher, C.26
Tomsey, C.27
Yet, D.28
more..
-
13
-
-
0034648121
-
Validation of the AMPFlSTR SGM Plus(TM) system for use in forensic casework
-
DOI 10.1016/S0379-0738(00)00182-1, PII S0379073800001821
-
Cotton E. A., Allsop R. F., Guest J. L., Frazier R. R. E., Koumi P., Callow I. P., Seager A., Sparkes R. L., Validation of the AMPFlSTR SGM Plus system for use in forensic casework Forensic Science International 2000 112 2-3 151 161 (Pubitemid 30625037)
-
(2000)
Forensic Science International
, vol.112
, Issue.2-3
, pp. 151-161
-
-
Cotton, E.A.1
Allsop, R.F.2
Guest, J.L.3
Frazier, R.R.E.4
Koumi, P.5
Callow, I.P.6
Seager, A.7
Sparkes, R.L.8
-
14
-
-
33644904034
-
Genetics and genomics of core short tandem repeat loci used in human identity testing
-
DOI 10.1111/j.1556-4029.2006.00046.x
-
Butler J. M., Genetics and genomics of core short tandem repeat loci used in human identity testing Journal of Forensic Sciences 2006 51 2 253 265 (Pubitemid 43382066)
-
(2006)
Journal of Forensic Sciences
, vol.51
, Issue.2
, pp. 253-265
-
-
Butler, J.M.1
-
15
-
-
38449101900
-
Short tandem repeat typing technologies used in human identity testing
-
Butler J. M., Short tandem repeat typing technologies used in human identity testing BioTechniques 2007 43 4 2 5
-
(2007)
BioTechniques
, vol.43
, Issue.4
, pp. 2-5
-
-
Butler, J.M.1
-
16
-
-
84870466516
-
-
Federal Bureau Of Investigation T. http://www.fbi.gov/about-us/lab/codis/ codis
-
The Federal Bureau of Investigation, Combined DNA Index System (CODIS). http://www.fbi.gov/about-us/lab/codis/codis
-
Combined DNA Index System (CODIS)
-
-
-
17
-
-
3042775276
-
Forensic DNA typing by capillary electrophoresis using the ABI Prism 310 and 3100 genetic analyzers for STR analysis
-
Butler J. M., Buel E., Crivellente F., McCord B. R., Forensic DNA typing by capillary electrophoresis using the ABI Prism 310 and 3100 genetic analyzers for STR analysis Electrophoresis 2004 25 10-11 1397 1412 (Pubitemid 38885802)
-
(2004)
Electrophoresis
, vol.25
, Issue.10-11
, pp. 1397-1412
-
-
Butler, J.M.1
Buel, E.2
Crivellente, F.3
McCord, B.R.4
-
18
-
-
73249128604
-
Forensic analysis of autosomal STR markers using Pyrosequencing
-
Divne A. M., Edlund H., Allen M., Forensic analysis of autosomal STR markers using Pyrosequencing Forensic Science International 2010 4 2 122 129
-
(2010)
Forensic Science International
, vol.4
, Issue.2
, pp. 122-129
-
-
Divne, A.M.1
Edlund, H.2
Allen, M.3
-
19
-
-
46149088452
-
Human papillomavirus typing with a polymerase chain reaction-based genotyping array compared with type-specific PCR
-
Lin C. Y., Chao A., Yang Y. C., Chou H. H., Ho C. M., Lin R. W., Chang T. C., Chiou J. Y., Chao F. Y., Wang K. L., Chien T. Y., Hsueh S., Huang C. C., Chen C. J., Lai C. H., Human papillomavirus typing with a polymerase chain reaction-based genotyping array compared with type-specific PCR Journal of Clinical Virology 2008 42 4 361 367
-
(2008)
Journal of Clinical Virology
, vol.42
, Issue.4
, pp. 361-367
-
-
Lin, C.Y.1
Chao, A.2
Yang, Y.C.3
Chou, H.H.4
Ho, C.M.5
Lin, R.W.6
Chang, T.C.7
Chiou, J.Y.8
Chao, F.Y.9
Wang, K.L.10
Chien, T.Y.11
Hsueh, S.12
Huang, C.C.13
Chen, C.J.14
Lai, C.H.15
-
20
-
-
54049144653
-
Copy-number variations associated with neuropsychiatric conditions
-
Cook E. H. Jr., Scherer S. W., Copy-number variations associated with neuropsychiatric conditions Nature 2008 455 7215 919 923
-
(2008)
Nature
, vol.455
, Issue.7215
, pp. 919-923
-
-
Cook, Jr.E.H.1
Scherer, S.W.2
-
21
-
-
58149182332
-
Crohn's disease-defect in innate defence
-
Gersemann M., Wehkamp J., Fellermann K., Stange E. F., Crohn's disease-defect in innate defence World Journal of Gastroenterology 2008 14 36 5499 5503
-
(2008)
World Journal of Gastroenterology
, vol.14
, Issue.36
, pp. 5499-5503
-
-
Gersemann, M.1
Wehkamp, J.2
Fellermann, K.3
Stange, E.F.4
-
22
-
-
77956342285
-
Both copy number and sequence variations affect expression of human DEFB4
-
Groth M., Wiegand C., Szafranski K., Huse K., Kramer M., Rosenstiel P., Schreiber S., Norgauer J., Platzer M., Both copy number and sequence variations affect expression of human DEFB4 Genes and Immunity 2010 11 6 458 466
-
(2010)
Genes and Immunity
, vol.11
, Issue.6
, pp. 458-466
-
-
Groth, M.1
Wiegand, C.2
Szafranski, K.3
Huse, K.4
Kramer, M.5
Rosenstiel, P.6
Schreiber, S.7
Norgauer, J.8
Platzer, M.9
-
23
-
-
26444577882
-
Copy number polymorphism and expression level variation of the human defensin genes DEFA1 and DEFA3
-
DOI 10.1093/hmg/ddi209
-
Aldred P. M. R., Hollox E. J., Armour J. A. L., Copy number polymorphism and expression level variation of the human -defensin genes DEFA1 and DEFA3 Human Molecular Genetics 2005 14 14 2045 2052 (Pubitemid 41418040)
-
(2005)
Human Molecular Genetics
, vol.14
, Issue.14
, pp. 2045-2052
-
-
Aldred, P.M.R.1
Hollox, E.J.2
Armour, J.A.L.3
-
24
-
-
37549033125
-
Psoriasis is associated with increased -defensin genomic copy number
-
Hollox E. J., Huffmeier U., Zeeuwen P. L. J. M., Palla R., Lascorz J., Rodijk-Olthuis D., Van De Kerkhof P. C. M., Traupe H., De Jongh G., Heijer M. D., Reis A., Armour J. A. L., Schalkwijk J., Psoriasis is associated with increased -defensin genomic copy number Nature Genetics 2008 40 1 23 25
-
(2008)
Nature Genetics
, vol.40
, Issue.1
, pp. 23-25
-
-
Hollox, E.J.1
Huffmeier, U.2
Zeeuwen, P.L.J.M.3
Palla, R.4
Lascorz, J.5
Rodijk-Olthuis, D.6
Van De Kerkhof, P.C.M.7
Traupe, H.8
De Jongh, G.9
Heijer, M.D.10
Reis, A.11
Armour, J.A.L.12
Schalkwijk, J.13
-
25
-
-
47949093301
-
High-resolution mapping of the 8p23.1 beta-defensin cluster reveals strictly concordant copy number variation of all genes
-
Groth M., Szafranski K., Taudien S., Huse K., Mueller O., Rosenstiel P., Nygren A. O. H., Schreiber S., Birkenmeier G., Platzer M., High-resolution mapping of the 8p23.1 beta-defensin cluster reveals strictly concordant copy number variation of all genes Human Mutation 2008 29 10 1247 1254
-
(2008)
Human Mutation
, vol.29
, Issue.10
, pp. 1247-1254
-
-
Groth, M.1
Szafranski, K.2
Taudien, S.3
Huse, K.4
Mueller, O.5
Rosenstiel, P.6
Nygren, A.O.H.7
Schreiber, S.8
Birkenmeier, G.9
Platzer, M.10
-
26
-
-
3543023204
-
Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
-
Schouten J. P., McElgunn C. J., Waaijer R., Zwijnenburg D., Diepvens F., Pals G., Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification Nucleic acids research 2002 30 12 e57
-
(2002)
Nucleic Acids Research
, vol.30
, Issue.12
, pp. 57
-
-
Schouten, J.P.1
McElgunn, C.J.2
Waaijer, R.3
Zwijnenburg, D.4
Diepvens, F.5
Pals, G.6
-
27
-
-
33847390726
-
Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats
-
Armour J. A. L., Palla R., Zeeuwen P. L. J. M., Heijer M. D., Schalkwijk J., Hollox E. J., Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats Nucleic Acids Research 2007 35 3, article e19
-
(2007)
Nucleic Acids Research
, vol.35
, Issue.3
-
-
Armour, J.A.L.1
Palla, R.2
Zeeuwen, P.L.J.M.3
Heijer, M.D.4
Schalkwijk, J.5
Hollox, E.J.6
-
28
-
-
10844248472
-
Detection of aneuploidies by paralogous sequence quantification
-
DOI 10.1136/jmg.2004.023184
-
Deutsch S., Choudhury U., Merla G., Howald C., Sylvan A., Antonarakis S. E., Detection of aneuploidies by paralogous sequence quantification Journal of Medical Genetics 2004 41 12 908 915 (Pubitemid 40007251)
-
(2004)
Journal of Medical Genetics
, vol.41
, Issue.12
, pp. 908-915
-
-
Deutsch, S.1
Choudhury, U.2
Merla, G.3
Howald, C.4
Sylvan, A.5
Antonarakis, S.E.6
-
29
-
-
33744921071
-
Copy number polymorphisms are not a common feature of innate immune genes
-
DOI 10.1016/j.ygeno.2006.03.005, PII S0888754306000723
-
Linzmeier R. M., Ganz T., Copy number polymorphisms are not a common feature of innate immune genes Genomics 2006 88 1 122 126 (Pubitemid 43851180)
-
(2006)
Genomics
, vol.88
, Issue.1
, pp. 122-126
-
-
Linzmeier, R.M.1
Ganz, T.2
-
30
-
-
0036772531
-
Gene copy number regulates the production of the human chemokine CCL3-L1
-
DOI 10.1002/1521-4141(2002010)32:10<3016::AID-IMMU3016>3.0.CO;2-D
-
Townson J.R., L.F. Barcellos, and R.J. Nibbs, Gene copy number regulates the production of the human chemokine CCL3-L1 European Journal of Immunology 2002 32 10 3016 3026 (Pubitemid 35238195)
-
(2002)
European Journal of Immunology
, vol.32
, Issue.10
, pp. 3016-3026
-
-
Townson, J.R.1
Barcellos, L.F.2
Nibbs, R.J.B.3
-
31
-
-
20044377204
-
The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility
-
DOI 10.1126/science.1101160
-
Gonzalez E., Kulkarni H., Bolivar H., Mangano A., Sanchez R., Catano G., Nibbs R. J., Freedman B. I., Quinones M. P., Bamshad M. J., Murthy K. K., Rovin B. H., Bradley W., Clark R. A., Anderson S. A., O'Connell R. J., Agan B. K., Ahuja S. S., Bologna R., Sen L., Dolan M. J., Ahuja S. K., The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility Science 2005 307 5714 1434 1440 (Pubitemid 40321934)
-
(2005)
Science
, vol.307
, Issue.5714
, pp. 1434-1440
-
-
Gonzalez, E.1
Kulkarni, H.2
Bolivar, H.3
Mangano, A.4
Sanchez, R.5
Catano, G.6
Nibbs, R.J.7
Freedman, B.I.8
Quinones, M.P.9
Bamshad, M.J.10
Murthy, K.K.11
Rovin, B.H.12
Bradley, W.13
Clark, R.A.14
Anderson, S.A.15
O'Connell, R.J.16
Agan, B.K.17
Ahuja, S.S.18
Bologna, R.19
Sen, L.20
Dolan, M.J.21
Ahuja, S.K.22
more..
-
32
-
-
62549095307
-
The evolutionary significance of copy number variation in the human genome
-
Perry G. H., The evolutionary significance of copy number variation in the human genome Cytogenetic and Genome Research 2009 123 14 283 287
-
(2009)
Cytogenetic and Genome Research
, vol.123
, Issue.14
, pp. 283-287
-
-
Perry, G.H.1
-
33
-
-
57649166523
-
VarDetect: A nucleotide sequence variation exploratory tool
-
Ngamphiw C., Kulawonganunchai S., Assawamakin A., Jenwitheesuk E., Tongsima S., VarDetect: a nucleotide sequence variation exploratory tool BMC Bioinformatics 2008 9 12, article S9
-
(2008)
BMC Bioinformatics
, vol.9
, Issue.12
-
-
Ngamphiw, C.1
Kulawonganunchai, S.2
Assawamakin, A.3
Jenwitheesuk, E.4
Tongsima, S.5
-
34
-
-
34548502976
-
Role of human papillomavirus genotype in prognosis of early-stage cervical cancer undergoing primary surgery
-
DOI 10.1200/JCO.2007.11.2995
-
Lai C. H., Chang C. J., Huang H. J., Hsueh S., Chao A., Yang J. E., Lin C. T., Huang S. L., Hong J. H., Chou H. H., Wu T. I., Huang K. G., Wang C. C., Chang T. C., Role of human papillomavirus genotype in prognosis of early-stage cervical cancer undergoing primary surgery Journal of Clinical Oncology 2007 25 24 3628 3634 (Pubitemid 47376606)
-
(2007)
Journal of Clinical Oncology
, vol.25
, Issue.24
, pp. 3628-3634
-
-
Lai, C.-H.1
Chang, C.-J.2
Huang, H.-J.3
Hsueh, S.4
Chao, A.5
Yang, J.-E.6
Lin, C.-T.7
Huang, S.-L.8
Hong, J.-H.9
Chou, H.-H.10
Wu, T.-I.11
Huang, K.-G.12
Wang, C.-C.13
Chang, T.-C.14
-
35
-
-
68249138519
-
Human papillomavirus in oral leukoplakia is no prognostic indicator of malignant transformation
-
Yang S. W., Lee Y. S., Chen T. A., Wu C. J., Tsai C. N., Human papillomavirus in oral leukoplakia is no prognostic indicator of malignant transformation Cancer Epidemiology 2009 33 2 118 122
-
(2009)
Cancer Epidemiology
, vol.33
, Issue.2
, pp. 118-122
-
-
Yang, S.W.1
Lee, Y.S.2
Chen, T.A.3
Wu, C.J.4
Tsai, C.N.5
-
36
-
-
40849097775
-
Rates of evolutionary change in viruses: Patterns and determinants
-
DOI 10.1038/nrg2323, PII NRG2323
-
Duffy S., Shackelton L. A., Holmes E. C., Rates of evolutionary change in viruses: patterns and determinants Nature Reviews Genetics 2008 9 4 267 276 (Pubitemid 351399833)
-
(2008)
Nature Reviews Genetics
, vol.9
, Issue.4
, pp. 267-276
-
-
Duffy, S.1
Shackelton, L.A.2
Holmes, E.C.3
-
37
-
-
56349107790
-
CGcgh: A tool for molecular karyotyping using DNA microarray-based comparative genomic hybridization (array-CGH)
-
Lee Y. S., Chao A., Chao A. S., Chang S. D., Chen C. H., Wu W. M., Wang T. H., Wang H. S., CGcgh: a tool for molecular karyotyping using DNA microarray-based comparative genomic hybridization (array-CGH) Journal of Biomedical Science 2008 15 6 687 696
-
(2008)
Journal of Biomedical Science
, vol.15
, Issue.6
, pp. 687-696
-
-
Lee, Y.S.1
Chao, A.2
Chao, A.S.3
Chang, S.D.4
Chen, C.H.5
Wu, W.M.6
Wang, T.H.7
Wang, H.S.8
-
38
-
-
34248170222
-
PolyScan: An automatic indel and SNP detection approach to the analysis of human resequencing data
-
DOI 10.1101/gr.6151507
-
Chen K., McLellan M. D., Ding L., Wendl M. C., Kasai Y., Wilson R. K., Mardis E. R., PolyScan: an automatic indel and SNP detection approach to the analysis of human resequencing data Genome Research 2007 17 5 659 666 (Pubitemid 46715517)
-
(2007)
Genome Research
, vol.17
, Issue.5
, pp. 659-666
-
-
Chen, K.1
McLellan, M.D.2
Ding, L.3
Wendl, M.C.4
Kasai, Y.5
Wilson, R.K.6
Mardis, E.R.7
|