-
1
-
-
52949141845
-
Integrated detection and population-genetic analysis of SNPs and copy number variation
-
McCarroll S.A., Kuruvilla F.G., Korn J.M., Cawley S., Nemesh J., Wysoker A., Shapero M.H., de Bakker P.I., Maller J.B., Kirby A., Elliott A.L., Parkin M., Hubbell E., Webster T., Mei R., Veitch J., Collins P.J., Handsaker R., Lincoln S., Nizzari M., Blume J., Jones K.W., Rava R., Daly M.J., Gabriel S.B., Altshuler D. Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat. Genet. 2008, 40:1166-1174.
-
(2008)
Nat. Genet.
, vol.40
, pp. 1166-1174
-
-
McCarroll, S.A.1
Kuruvilla, F.G.2
Korn, J.M.3
Cawley, S.4
Nemesh, J.5
Wysoker, A.6
Shapero, M.H.7
de Bakker, P.I.8
Maller, J.B.9
Kirby, A.10
Elliott, A.L.11
Parkin, M.12
Hubbell, E.13
Webster, T.14
Mei, R.15
Veitch, J.16
Collins, P.J.17
Handsaker, R.18
Lincoln, S.19
Nizzari, M.20
Blume, J.21
Jones, K.W.22
Rava, R.23
Daly, M.J.24
Gabriel, S.B.25
Altshuler, D.26
more..
-
2
-
-
70349956433
-
Finding the missing heritability of complex diseases
-
Manolio T.A., Collins F.S., Cox N.J., Goldstein D.B., Hindorff L.A., Hunter D.J., McCarthy M.I., Ramos E.M., Cardon L.R., Chakravarti A., Cho J.H., Guttmacher A.E., Kong A., Kruglyak L., Mardis E., Rotimi C.N., Slatkin M., Valle D., Whittemore A.S., Boehnke M., Clark A.G., Eichler E.E., Gibson G., Haines J.L., Mackay T.F., McCarroll S.A., Visscher P.M. Finding the missing heritability of complex diseases. Nature 2009, 461:747-753.
-
(2009)
Nature
, vol.461
, pp. 747-753
-
-
Manolio, T.A.1
Collins, F.S.2
Cox, N.J.3
Goldstein, D.B.4
Hindorff, L.A.5
Hunter, D.J.6
McCarthy, M.I.7
Ramos, E.M.8
Cardon, L.R.9
Chakravarti, A.10
Cho, J.H.11
Guttmacher, A.E.12
Kong, A.13
Kruglyak, L.14
Mardis, E.15
Rotimi, C.N.16
Slatkin, M.17
Valle, D.18
Whittemore, A.S.19
Boehnke, M.20
Clark, A.G.21
Eichler, E.E.22
Gibson, G.23
Haines, J.L.24
Mackay, T.F.25
McCarroll, S.A.26
Visscher, P.M.27
more..
-
3
-
-
70349739657
-
Structural chromosomal variations in neurological diseases
-
Kalman B., Vitale E. Structural chromosomal variations in neurological diseases. Neurologist 2009, 15:245-253.
-
(2009)
Neurologist
, vol.15
, pp. 245-253
-
-
Kalman, B.1
Vitale, E.2
-
4
-
-
40849141981
-
Copy-number variation in sporadic amyotrophic lateral sclerosis: a genome-wide screen
-
Blauw H.M., Veldink J.H., van Es M.A., van Vught P.W., Saris C.G., van der Zwaag B., Franke L., Burbach J.P., Wokke J.H., Ophoff R.A., van den Berg L.H. Copy-number variation in sporadic amyotrophic lateral sclerosis: a genome-wide screen. Lancet Neurol. 2008, 7:319-326.
-
(2008)
Lancet Neurol.
, vol.7
, pp. 319-326
-
-
Blauw, H.M.1
Veldink, J.H.2
van Es, M.A.3
van Vught, P.W.4
Saris, C.G.5
van der Zwaag, B.6
Franke, L.7
Burbach, J.P.8
Wokke, J.H.9
Ophoff, R.A.10
van den Berg, L.H.11
-
7
-
-
75149117452
-
Genome-wide scan of copy number variation in late-onset Alzheimer's disease
-
Heinzen E.L., Need A.C., Hayden K.M., Chiba-Falek O., Roses A.D., Strittmatter W.J., Burke J.R., Hulette C.M., Welsh-Bohmer K.A., Goldstein D.B. Genome-wide scan of copy number variation in late-onset Alzheimer's disease. J. Alzheimers Dis. 2010, 19:69-77.
-
(2010)
J. Alzheimers Dis.
, vol.19
, pp. 69-77
-
-
Heinzen, E.L.1
Need, A.C.2
Hayden, K.M.3
Chiba-Falek, O.4
Roses, A.D.5
Strittmatter, W.J.6
Burke, J.R.7
Hulette, C.M.8
Welsh-Bohmer, K.A.9
Goldstein, D.B.10
-
8
-
-
84861196267
-
The Alzheimer's disease neuroimaging initiative, genomic copy number analysis in Alzheimer's disease and mild cognitive impairment: an ADNI study
-
Swaminathan S., Kim S., Shen L., Risacher S.L., Foroud T., Pankratz N., Potkin S.G., Huentelman M.J., Craig D.W., Weiner M.W., Saykin A.J. The Alzheimer's disease neuroimaging initiative, genomic copy number analysis in Alzheimer's disease and mild cognitive impairment: an ADNI study. Int J Alzheimers Dis 2011, 2011:729478.
-
(2011)
Int J Alzheimers Dis
, vol.2011
, pp. 729478
-
-
Swaminathan, S.1
Kim, S.2
Shen, L.3
Risacher, S.L.4
Foroud, T.5
Pankratz, N.6
Potkin, S.G.7
Huentelman, M.J.8
Craig, D.W.9
Weiner, M.W.10
Saykin, A.J.11
-
9
-
-
84866687636
-
Analysis of copy number variation in Alzheimer's disease: the NIALOAD/NCRAD Family Study
-
Swaminathan S., Shen L., Kim S., Inlow M., West J.D., Faber K.M., Foroud T., Mayeux R., Saykin A.J. Analysis of copy number variation in Alzheimer's disease: the NIALOAD/NCRAD Family Study. Curr. Alzheimer Res. 2012, 9:801-814.
-
(2012)
Curr. Alzheimer Res.
, vol.9
, pp. 801-814
-
-
Swaminathan, S.1
Shen, L.2
Kim, S.3
Inlow, M.4
West, J.D.5
Faber, K.M.6
Foroud, T.7
Mayeux, R.8
Saykin, A.J.9
-
10
-
-
33751329250
-
Global variation in copy number in the human genome
-
Redon R., Ishikawa S., Fitch K.R., Feuk L., Perry G.H., Andrews T.D., Fiegler H., Shapero M.H., Carson A.R., Chen W., Cho E.K., Dallaire S., Freeman J.L., Gonzalez J.R., Gratacos M., Huang J., Kalaitzopoulos D., Komura D., MacDonald J.R., Marshall C.R., Mei R., Montgomery L., Nishimura K., Okamura K., Shen F., Somerville M.J., Tchinda J., Valsesia A., Woodwark C., Yang F., Zhang J., Zerjal T., Armengol L., Conrad D.F., Estivill X., Tyler-Smith C., Carter N.P., Aburatani H., Lee C., Jones K.W., Scherer S.W., Hurles M.E. Global variation in copy number in the human genome. Nature 2006, 444:444-454.
-
(2006)
Nature
, vol.444
, pp. 444-454
-
-
Redon, R.1
Ishikawa, S.2
Fitch, K.R.3
Feuk, L.4
Perry, G.H.5
Andrews, T.D.6
Fiegler, H.7
Shapero, M.H.8
Carson, A.R.9
Chen, W.10
Cho, E.K.11
Dallaire, S.12
Freeman, J.L.13
Gonzalez, J.R.14
Gratacos, M.15
Huang, J.16
Kalaitzopoulos, D.17
Komura, D.18
MacDonald, J.R.19
Marshall, C.R.20
Mei, R.21
Montgomery, L.22
Nishimura, K.23
Okamura, K.24
Shen, F.25
Somerville, M.J.26
Tchinda, J.27
Valsesia, A.28
Woodwark, C.29
Yang, F.30
Zhang, J.31
Zerjal, T.32
Armengol, L.33
Conrad, D.F.34
Estivill, X.35
Tyler-Smith, C.36
Carter, N.P.37
Aburatani, H.38
Lee, C.39
Jones, K.W.40
Scherer, S.W.41
Hurles, M.E.42
more..
-
11
-
-
78650753262
-
Microarray-based maps of copy-number variant regions in European and sub-Saharan populations
-
Vogler C., Gschwind L., Rothlisberger B., Huber A., Filges I., Miny P., Auschra B., Stetak A., Demougin P., Vukojevic V., Kolassa I.T., Elbert T., de Quervain D.J., Papassotiropoulos A. Microarray-based maps of copy-number variant regions in European and sub-Saharan populations. PLoS One 2010, 5:e15246.
-
(2010)
PLoS One
, vol.5
-
-
Vogler, C.1
Gschwind, L.2
Rothlisberger, B.3
Huber, A.4
Filges, I.5
Miny, P.6
Auschra, B.7
Stetak, A.8
Demougin, P.9
Vukojevic, V.10
Kolassa, I.T.11
Elbert, T.12
de Quervain, D.J.13
Papassotiropoulos, A.14
-
12
-
-
39749197456
-
Genotype, haplotype and copy-number variation in worldwide human populations
-
Jakobsson M., Scholz S.W., Scheet P., Gibbs J.R., VanLiere J.M., Fung H.C., Szpiech Z.A., Degnan J.H., Wang K., Guerreiro R., Bras J.M., Schymick J.C., Hernandez D.G., Traynor B.J., Simon-Sanchez J., Matarin M., Britton A., van de Leemput J., Rafferty I., Bucan M., Cann H.M., Hardy J.A., Rosenberg N.A., Singleton A.B. Genotype, haplotype and copy-number variation in worldwide human populations. Nature 2008, 451:998-1003.
-
(2008)
Nature
, vol.451
, pp. 998-1003
-
-
Jakobsson, M.1
Scholz, S.W.2
Scheet, P.3
Gibbs, J.R.4
VanLiere, J.M.5
Fung, H.C.6
Szpiech, Z.A.7
Degnan, J.H.8
Wang, K.9
Guerreiro, R.10
Bras, J.M.11
Schymick, J.C.12
Hernandez, D.G.13
Traynor, B.J.14
Simon-Sanchez, J.15
Matarin, M.16
Britton, A.17
van de Leemput, J.18
Rafferty, I.19
Bucan, M.20
Cann, H.M.21
Hardy, J.A.22
Rosenberg, N.A.23
Singleton, A.B.24
more..
-
13
-
-
79953875961
-
Copy number variation of microRNA genes in the human genome
-
Marcinkowska M., Szymanski M., Krzyzosiak W.J., Kozlowski P. Copy number variation of microRNA genes in the human genome. BMC Genomics 2011, 12:183.
-
(2011)
BMC Genomics
, vol.12
, pp. 183
-
-
Marcinkowska, M.1
Szymanski, M.2
Krzyzosiak, W.J.3
Kozlowski, P.4
-
14
-
-
42649117472
-
Distribution and functional impact of DNA copy number variation in the rat
-
Guryev V., Saar K., Adamovic T., Verheul M., van Heesch S.A., Cook S., Pravenec M., Aitman T., Jacob H., Shull J.D., Hubner N., Cuppen E. Distribution and functional impact of DNA copy number variation in the rat. Nat. Genet. 2008, 40:538-545.
-
(2008)
Nat. Genet.
, vol.40
, pp. 538-545
-
-
Guryev, V.1
Saar, K.2
Adamovic, T.3
Verheul, M.4
van Heesch, S.A.5
Cook, S.6
Pravenec, M.7
Aitman, T.8
Jacob, H.9
Shull, J.D.10
Hubner, N.11
Cuppen, E.12
-
15
-
-
79954672317
-
Genome structural variation discovery and genotyping
-
Alkan C., Coe B.P., Eichler E.E. Genome structural variation discovery and genotyping. Nat. Rev. Genet. 2011, 12:363-376.
-
(2011)
Nat. Rev. Genet.
, vol.12
, pp. 363-376
-
-
Alkan, C.1
Coe, B.P.2
Eichler, E.E.3
-
16
-
-
79958162661
-
Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants
-
Pinto D., Darvishi K., Shi X., Rajan D., Rigler D., Fitzgerald T., Lionel A.C., Thiruvahindrapuram B., Macdonald J.R., Mills R., Prasad A., Noonan K., Gribble S., Prigmore E., Donahoe P.K., Smith R.S., Park J.H., Hurles M.E., Carter N.P., Lee C., Scherer S.W., Feuk L. Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants. Nat. Biotechnol. 2011, 29:512-520.
-
(2011)
Nat. Biotechnol.
, vol.29
, pp. 512-520
-
-
Pinto, D.1
Darvishi, K.2
Shi, X.3
Rajan, D.4
Rigler, D.5
Fitzgerald, T.6
Lionel, A.C.7
Thiruvahindrapuram, B.8
Macdonald, J.R.9
Mills, R.10
Prasad, A.11
Noonan, K.12
Gribble, S.13
Prigmore, E.14
Donahoe, P.K.15
Smith, R.S.16
Park, J.H.17
Hurles, M.E.18
Carter, N.P.19
Lee, C.20
Scherer, S.W.21
Feuk, L.22
more..
-
18
-
-
77953974065
-
Comparative analyses of seven algorithms for copy number variant identification from single nucleotide polymorphism arrays
-
Dellinger A.E., Saw S.M., Goh L.K., Seielstad M., Young T.L., Li Y.J. Comparative analyses of seven algorithms for copy number variant identification from single nucleotide polymorphism arrays. Nucleic Acids Res. 2010, 38:e105.
-
(2010)
Nucleic Acids Res.
, vol.38
-
-
Dellinger, A.E.1
Saw, S.M.2
Goh, L.K.3
Seielstad, M.4
Young, T.L.5
Li, Y.J.6
-
19
-
-
35348988679
-
Paired-end mapping reveals extensive structural variation in the human genome
-
Korbel J.O., Urban A.E., Affourtit J.P., Godwin B., Grubert F., Simons J.F., Kim P.M., Palejev D., Carriero N.J., Du L., Taillon B.E., Chen Z., Tanzer A., Saunders A.C., Chi J., Yang F., Carter N.P., Hurles M.E., Weissman S.M., Harkins T.T., Gerstein M.B., Egholm M., Snyder M. Paired-end mapping reveals extensive structural variation in the human genome. Science 2007, 318:420-426.
-
(2007)
Science
, vol.318
, pp. 420-426
-
-
Korbel, J.O.1
Urban, A.E.2
Affourtit, J.P.3
Godwin, B.4
Grubert, F.5
Simons, J.F.6
Kim, P.M.7
Palejev, D.8
Carriero, N.J.9
Du, L.10
Taillon, B.E.11
Chen, Z.12
Tanzer, A.13
Saunders, A.C.14
Chi, J.15
Yang, F.16
Carter, N.P.17
Hurles, M.E.18
Weissman, S.M.19
Harkins, T.T.20
Gerstein, M.B.21
Egholm, M.22
Snyder, M.23
more..
-
20
-
-
70449704529
-
Computational methods for discovering structural variation with next-generation sequencing
-
Medvedev P., Stanciu M., Brudno M. Computational methods for discovering structural variation with next-generation sequencing. Nat. Methods 2009, 6:S13-20.
-
(2009)
Nat. Methods
, vol.6
-
-
Medvedev, P.1
Stanciu, M.2
Brudno, M.3
-
21
-
-
68449089420
-
Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease
-
Potkin S.G., Guffanti G., Lakatos A., Turner J.A., Kruggel F., Fallon J.H., Saykin A.J., Orro A., Lupoli S., Salvi E., Weiner M., Macciardi F. Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease. PLoS One 2009, 4:e6501.
-
(2009)
PLoS One
, vol.4
-
-
Potkin, S.G.1
Guffanti, G.2
Lakatos, A.3
Turner, J.A.4
Kruggel, F.5
Fallon, J.H.6
Saykin, A.J.7
Orro, A.8
Lupoli, S.9
Salvi, E.10
Weiner, M.11
Macciardi, F.12
-
22
-
-
77954034488
-
Whole genome association study of brain-wide imaging phenotypes for identifying quantitative trait loci in MCI and AD: A study of the ADNI cohort
-
Shen L., Kim S., Risacher S.L., Nho K., Swaminathan S., West J.D., Foroud T., Pankratz N., Moore J.H., Sloan C.D., Huentelman M.J., Craig D.W., Dechairo B.M., Potkin S.G., Jack C.R., Weiner M.W., Saykin A.J. Whole genome association study of brain-wide imaging phenotypes for identifying quantitative trait loci in MCI and AD: A study of the ADNI cohort. Neuroimage 2010, 53:1051-1063.
-
(2010)
Neuroimage
, vol.53
, pp. 1051-1063
-
-
Shen, L.1
Kim, S.2
Risacher, S.L.3
Nho, K.4
Swaminathan, S.5
West, J.D.6
Foroud, T.7
Pankratz, N.8
Moore, J.H.9
Sloan, C.D.10
Huentelman, M.J.11
Craig, D.W.12
Dechairo, B.M.13
Potkin, S.G.14
Jack, C.R.15
Weiner, M.W.16
Saykin, A.J.17
-
23
-
-
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., 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, 464:704-712.
-
(2010)
Nature
, vol.464
, 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.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..
-
24
-
-
35948984173
-
PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data
-
Wang K., Li M., Hadley D., Liu R., Glessner J., Grant S.F., Hakonarson H., Bucan M. PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res. 2007, 17:1665-1674.
-
(2007)
Genome Res.
, vol.17
, pp. 1665-1674
-
-
Wang, K.1
Li, M.2
Hadley, D.3
Liu, R.4
Glessner, J.5
Grant, S.F.6
Hakonarson, H.7
Bucan, M.8
-
25
-
-
84869021472
-
Copy Number Variation detection from 1000 Genomes project exon capture sequencing data
-
Wu J., Grzeda K.R., Stewart C., Grubert F., Urban A.E., Snyder M.P., Marth G.T. Copy Number Variation detection from 1000 Genomes project exon capture sequencing data. BMC Bioinformatics 2012, 13:305.
-
(2012)
BMC Bioinformatics
, vol.13
, pp. 305
-
-
Wu, J.1
Grzeda, K.R.2
Stewart, C.3
Grubert, F.4
Urban, A.E.5
Snyder, M.P.6
Marth, G.T.7
-
26
-
-
75549090213
-
KEGG for representation and analysis of molecular networks involving diseases and drugs
-
Kanehisa M., Goto S., Furumichi M., Tanabe M., Hirakawa M. KEGG for representation and analysis of molecular networks involving diseases and drugs. Nucleic Acids Res. 2010, 38:D355-360.
-
(2010)
Nucleic Acids Res.
, vol.38
-
-
Kanehisa, M.1
Goto, S.2
Furumichi, M.3
Tanabe, M.4
Hirakawa, M.5
-
27
-
-
33846978695
-
Relative impact of nucleotide and copy number variation on gene expression phenotypes
-
Stranger B.E., Forrest M.S., Dunning M., Ingle C.E., Beazley C., Thorne N., Redon R., Bird C.P., de Grassi A., Lee C., Tyler-Smith C., Carter N., Scherer S.W., Tavare S., Deloukas P., Hurles M.E., Dermitzakis E.T. Relative impact of nucleotide and copy number variation on gene expression phenotypes. Science 2007, 315:848-853.
-
(2007)
Science
, vol.315
, pp. 848-853
-
-
Stranger, B.E.1
Forrest, M.S.2
Dunning, M.3
Ingle, C.E.4
Beazley, C.5
Thorne, N.6
Redon, R.7
Bird, C.P.8
de Grassi, A.9
Lee, C.10
Tyler-Smith, C.11
Carter, N.12
Scherer, S.W.13
Tavare, S.14
Deloukas, P.15
Hurles, M.E.16
Dermitzakis, E.T.17
-
28
-
-
84865110807
-
Identification of functional CNV region networks using a CNV-gene mapping algorithm in a genome-wide scale
-
Park C., Ahn J., Yoon Y., Park S. Identification of functional CNV region networks using a CNV-gene mapping algorithm in a genome-wide scale. Bioinformatics 2012, 28:2045-2051.
-
(2012)
Bioinformatics
, vol.28
, pp. 2045-2051
-
-
Park, C.1
Ahn, J.2
Yoon, Y.3
Park, S.4
-
29
-
-
80052031904
-
Rare copy number deletions predict individual variation in human brain metabolite concentrations in individuals with alcohol use disorders
-
Yeo R.A., Gangestad S.W., Gasparovic C., Liu J., Calhoun V.D., Thoma R.J., Mayer A.R., Kalyanam R., Hutchison K.E. Rare copy number deletions predict individual variation in human brain metabolite concentrations in individuals with alcohol use disorders. Biol. Psychiatry 2011, 70:537-544.
-
(2011)
Biol. Psychiatry
, vol.70
, pp. 537-544
-
-
Yeo, R.A.1
Gangestad, S.W.2
Gasparovic, C.3
Liu, J.4
Calhoun, V.D.5
Thoma, R.J.6
Mayer, A.R.7
Kalyanam, R.8
Hutchison, K.E.9
-
30
-
-
79551563242
-
Rare copy number deletions predict individual variation in intelligence
-
Yeo R.A., Gangestad S.W., Liu J., Calhoun V.D., Hutchison K.E. Rare copy number deletions predict individual variation in intelligence. PLoS One 2011, 6:e16339.
-
(2011)
PLoS One
, vol.6
-
-
Yeo, R.A.1
Gangestad, S.W.2
Liu, J.3
Calhoun, V.D.4
Hutchison, K.E.5
-
31
-
-
51649107017
-
Rare chromosomal deletions and duplications increase risk of schizophrenia
-
ISC
-
ISC Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 2008, 455:237-241.
-
(2008)
Nature
, vol.455
, pp. 237-241
-
-
-
32
-
-
42349088634
-
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia
-
Walsh T., McClellan J.M., McCarthy S.E., Addington A.M., Pierce S.B., Cooper G.M., Nord A.S., Kusenda M., Malhotra D., Bhandari A., Stray S.M., Rippey C.F., Roccanova P., Makarov V., Lakshmi B., Findling R.L., Sikich L., Stromberg T., Merriman B., Gogtay N., Butler P., Eckstrand K., Noory L., Gochman P., Long R., Chen Z., Davis S., Baker C., Eichler E.E., Meltzer P.S., Nelson S.F., Singleton A.B., Lee M.K., Rapoport J.L., King M.C., Sebat J. Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science 2008, 320:539-543.
-
(2008)
Science
, vol.320
, pp. 539-543
-
-
Walsh, T.1
McClellan, J.M.2
McCarthy, S.E.3
Addington, A.M.4
Pierce, S.B.5
Cooper, G.M.6
Nord, A.S.7
Kusenda, M.8
Malhotra, D.9
Bhandari, A.10
Stray, S.M.11
Rippey, C.F.12
Roccanova, P.13
Makarov, V.14
Lakshmi, B.15
Findling, R.L.16
Sikich, L.17
Stromberg, T.18
Merriman, B.19
Gogtay, N.20
Butler, P.21
Eckstrand, K.22
Noory, L.23
Gochman, P.24
Long, R.25
Chen, Z.26
Davis, S.27
Baker, C.28
Eichler, E.E.29
Meltzer, P.S.30
Nelson, S.F.31
Singleton, A.B.32
Lee, M.K.33
Rapoport, J.L.34
King, M.C.35
Sebat, J.36
more..
-
33
-
-
84870529525
-
Diverse types of genetic variation converge on functional gene networks involved in schizophrenia
-
Gilman S.R., Chang J., Xu B., Bawa T.S., Gogos J.A., Karayiorgou M., Vitkup D. Diverse types of genetic variation converge on functional gene networks involved in schizophrenia. Nat. Neurosci. 2012, 15:1723-1728.
-
(2012)
Nat. Neurosci.
, vol.15
, pp. 1723-1728
-
-
Gilman, S.R.1
Chang, J.2
Xu, B.3
Bawa, T.S.4
Gogos, J.A.5
Karayiorgou, M.6
Vitkup, D.7
-
34
-
-
84866599675
-
Brain copy number variants and neuropsychiatric traits
-
Lupski J.R. Brain copy number variants and neuropsychiatric traits. Biol. Psychiatry 2012, 72:617-619.
-
(2012)
Biol. Psychiatry
, vol.72
, pp. 617-619
-
-
Lupski, J.R.1
-
35
-
-
84867172514
-
Phenotypic heterogeneity of genomic disorders and rare copy-number variants
-
Girirajan S., Rosenfeld J.A., Coe B.P., Parikh S., Friedman N., Goldstein A., Filipink R.A., McConnell J.S., Angle B., Meschino W.S., Nezarati M.M., Asamoah A., Jackson K.E., Gowans G.C., Martin J.A., Carmany E.P., Stockton D.W., Schnur R.E., Penney L.S., Martin D.M., Raskin S., Leppig K., Thiese H., Smith R., Aberg E., Niyazov D.M., Escobar L.F., El-Khechen D., Johnson K.D., Lebel R.R., Siefkas K., Ball S., Shur N., McGuire M., Brasington C.K., Spence J.E., Martin L.S., Clericuzio C., Ballif B.C., Shaffer L.G., Eichler E.E. Phenotypic heterogeneity of genomic disorders and rare copy-number variants. N. Engl. J. Med. 2012, 367:1321-1331.
-
(2012)
N. Engl. J. Med.
, vol.367
, pp. 1321-1331
-
-
Girirajan, S.1
Rosenfeld, J.A.2
Coe, B.P.3
Parikh, S.4
Friedman, N.5
Goldstein, A.6
Filipink, R.A.7
McConnell, J.S.8
Angle, B.9
Meschino, W.S.10
Nezarati, M.M.11
Asamoah, A.12
Jackson, K.E.13
Gowans, G.C.14
Martin, J.A.15
Carmany, E.P.16
Stockton, D.W.17
Schnur, R.E.18
Penney, L.S.19
Martin, D.M.20
Raskin, S.21
Leppig, K.22
Thiese, H.23
Smith, R.24
Aberg, E.25
Niyazov, D.M.26
Escobar, L.F.27
El-Khechen, D.28
Johnson, K.D.29
Lebel, R.R.30
Siefkas, K.31
Ball, S.32
Shur, N.33
McGuire, M.34
Brasington, C.K.35
Spence, J.E.36
Martin, L.S.37
Clericuzio, C.38
Ballif, B.C.39
Shaffer, L.G.40
Eichler, E.E.41
more..
-
36
-
-
3242808027
-
Large-scale copy number polymorphism in the human genome
-
Sebat J., Lakshmi B., Troge J., Alexander J., Young J., Lundin P., Maner S., Massa H., Walker M., Chi M., Navin N., Lucito R., Healy J., Hicks J., Ye K., Reiner A., Gilliam T.C., Trask B., Patterson N., Zetterberg A., Wigler M. Large-scale copy number polymorphism in the human genome. Science 2004, 305:525-528.
-
(2004)
Science
, vol.305
, pp. 525-528
-
-
Sebat, J.1
Lakshmi, B.2
Troge, J.3
Alexander, J.4
Young, J.5
Lundin, P.6
Maner, S.7
Massa, H.8
Walker, M.9
Chi, M.10
Navin, N.11
Lucito, R.12
Healy, J.13
Hicks, J.14
Ye, K.15
Reiner, A.16
Gilliam, T.C.17
Trask, B.18
Patterson, N.19
Zetterberg, A.20
Wigler, M.21
more..
-
37
-
-
33749043929
-
Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders
-
Lee J.A., Lupski J.R. Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders. Neuron 2006, 52:103-121.
-
(2006)
Neuron
, vol.52
, pp. 103-121
-
-
Lee, J.A.1
Lupski, J.R.2
-
38
-
-
54049144653
-
Copy-number variations associated with neuropsychiatric conditions
-
Cook E.H., Scherer S.W. Copy-number variations associated with neuropsychiatric conditions. Nature 2008, 455:919-923.
-
(2008)
Nature
, vol.455
, pp. 919-923
-
-
Cook, E.H.1
Scherer, S.W.2
-
39
-
-
84975804424
-
Mapping copy number variation by population-scale genome sequencing
-
Mills R.E., Walter K., Stewart C., Handsaker R.E., Chen K., Alkan C., Abyzov A., Yoon S.C., Ye K., Cheetham R.K., Chinwalla A., Conrad D.F., Fu Y., Grubert F., Hajirasouliha I., Hormozdiari F., Iakoucheva L.M., Iqbal Z., Kang S., Kidd J.M., Konkel M.K., Korn J., Khurana E., Kural D., Lam H.Y., Leng J., Li R., Li Y., Lin C.Y., Luo R., Mu X.J., Nemesh J., Peckham H.E., Rausch T., Scally A., Shi X., Stromberg M.P., Stutz A.M., Urban A.E., Walker J.A., Wu J., Zhang Y., Zhang Z.D., Batzer M.A., Ding L., Marth G.T., McVean G., Sebat J., Snyder M., Wang J., Eichler E.E., Gerstein M.B., Hurles M.E., Lee C., McCarroll S.A., Korbel J.O. Mapping copy number variation by population-scale genome sequencing. Nature 2011, 470:59-65.
-
(2011)
Nature
, vol.470
, pp. 59-65
-
-
Mills, R.E.1
Walter, K.2
Stewart, C.3
Handsaker, R.E.4
Chen, K.5
Alkan, C.6
Abyzov, A.7
Yoon, S.C.8
Ye, K.9
Cheetham, R.K.10
Chinwalla, A.11
Conrad, D.F.12
Fu, Y.13
Grubert, F.14
Hajirasouliha, I.15
Hormozdiari, F.16
Iakoucheva, L.M.17
Iqbal, Z.18
Kang, S.19
Kidd, J.M.20
Konkel, M.K.21
Korn, J.22
Khurana, E.23
Kural, D.24
Lam, H.Y.25
Leng, J.26
Li, R.27
Li, Y.28
Lin, C.Y.29
Luo, R.30
Mu, X.J.31
Nemesh, J.32
Peckham, H.E.33
Rausch, T.34
Scally, A.35
Shi, X.36
Stromberg, M.P.37
Stutz, A.M.38
Urban, A.E.39
Walker, J.A.40
Wu, J.41
Zhang, Y.42
Zhang, Z.D.43
Batzer, M.A.44
Ding, L.45
Marth, G.T.46
McVean, G.47
Sebat, J.48
Snyder, M.49
Wang, J.50
Eichler, E.E.51
Gerstein, M.B.52
Hurles, M.E.53
Lee, C.54
McCarroll, S.A.55
Korbel, J.O.56
more..
-
40
-
-
77951719393
-
Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing
-
Park H., Kim J.I., Ju Y.S., Gokcumen O., Mills R.E., Kim S., Lee S., Suh D., Hong D., Kang H.P., Yoo Y.J., Shin J.Y., Kim H.J., Yavartanoo M., Chang Y.W., Ha J.S., Chong W., Hwang G.R., Darvishi K., Kim H., Yang S.J., Yang K.S., Kim H., Hurles M.E., Scherer S.W., Carter N.P., Tyler-Smith C., Lee C., Seo J.S. Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing. Nat. Genet. 2010, 42:400-405.
-
(2010)
Nat. Genet.
, vol.42
, pp. 400-405
-
-
Park, H.1
Kim, J.I.2
Ju, Y.S.3
Gokcumen, O.4
Mills, R.E.5
Kim, S.6
Lee, S.7
Suh, D.8
Hong, D.9
Kang, H.P.10
Yoo, Y.J.11
Shin, J.Y.12
Kim, H.J.13
Yavartanoo, M.14
Chang, Y.W.15
Ha, J.S.16
Chong, W.17
Hwang, G.R.18
Darvishi, K.19
Kim, H.20
Yang, S.J.21
Yang, K.S.22
Kim, H.23
Hurles, M.E.24
Scherer, S.W.25
Carter, N.P.26
Tyler-Smith, C.27
Lee, C.28
Seo, J.S.29
more..
-
41
-
-
77955778246
-
Using next-generation sequencing for high resolution multiplex analysis of copy number variation from nanogram quantities of DNA from formalin-fixed paraffin-embedded specimens
-
Wood H.M., Belvedere O., Conway C., Daly C., Chalkley R., Bickerdike M., McKinley C., Egan P., Ross L., Hayward B., Morgan J., Davidson L., MacLennan K., Ong T.K., Papagiannopoulos K., Cook I., Adams D.J., Taylor G.R., Rabbitts P. Using next-generation sequencing for high resolution multiplex analysis of copy number variation from nanogram quantities of DNA from formalin-fixed paraffin-embedded specimens. Nucleic Acids Res. 2010, 38:e151.
-
(2010)
Nucleic Acids Res.
, vol.38
-
-
Wood, H.M.1
Belvedere, O.2
Conway, C.3
Daly, C.4
Chalkley, R.5
Bickerdike, M.6
McKinley, C.7
Egan, P.8
Ross, L.9
Hayward, B.10
Morgan, J.11
Davidson, L.12
MacLennan, K.13
Ong, T.K.14
Papagiannopoulos, K.15
Cook, I.16
Adams, D.J.17
Taylor, G.R.18
Rabbitts, P.19
-
42
-
-
79951970227
-
CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing
-
Abyzov A., Urban A.E., Snyder M., Gerstein M. CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing. Genome Res. 2011, 21:974-984.
-
(2011)
Genome Res.
, vol.21
, pp. 974-984
-
-
Abyzov, A.1
Urban, A.E.2
Snyder, M.3
Gerstein, M.4
-
43
-
-
44349191457
-
Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing
-
Campbell P.J., Stephens P.J., Pleasance E.D., O'Meara S., Li H., Santarius T., Stebbings L.A., Leroy C., Edkins S., Hardy C., Teague J.W., Menzies A., Goodhead I., Turner D.J., Clee C.M., Quail M.A., Cox A., Brown C., Durbin R., Hurles M.E., Edwards P.A., Bignell G.R., Stratton M.R., Futreal P.A. Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing. Nat. Genet. 2008, 40:722-729.
-
(2008)
Nat. Genet.
, vol.40
, pp. 722-729
-
-
Campbell, P.J.1
Stephens, P.J.2
Pleasance, E.D.3
O'Meara, S.4
Li, H.5
Santarius, T.6
Stebbings, L.A.7
Leroy, C.8
Edkins, S.9
Hardy, C.10
Teague, J.W.11
Menzies, A.12
Goodhead, I.13
Turner, D.J.14
Clee, C.M.15
Quail, M.A.16
Cox, A.17
Brown, C.18
Durbin, R.19
Hurles, M.E.20
Edwards, P.A.21
Bignell, G.R.22
Stratton, M.R.23
Futreal, P.A.24
more..
-
44
-
-
70349556543
-
Personalized copy number and segmental duplication maps using next-generation sequencing
-
Alkan C., Kidd J.M., Marques-Bonet T., Aksay G., Antonacci F., Hormozdiari F., Kitzman J.O., Baker C., Malig M., Mutlu O., Sahinalp S.C., Gibbs R.A., Eichler E.E. Personalized copy number and segmental duplication maps using next-generation sequencing. Nat. Genet. 2009, 41:1061-1067.
-
(2009)
Nat. Genet.
, vol.41
, pp. 1061-1067
-
-
Alkan, C.1
Kidd, J.M.2
Marques-Bonet, T.3
Aksay, G.4
Antonacci, F.5
Hormozdiari, F.6
Kitzman, J.O.7
Baker, C.8
Malig, M.9
Mutlu, O.10
Sahinalp, S.C.11
Gibbs, R.A.12
Eichler, E.E.13
-
45
-
-
58149218240
-
High-resolution mapping of copy-number alterations with massively parallel sequencing
-
Chiang D.Y., Getz G., Jaffe D.B., O'Kelly M.J., Zhao X., Carter S.L., Russ C., Nusbaum C., Meyerson M., Lander E.S. High-resolution mapping of copy-number alterations with massively parallel sequencing. Nat. Methods 2009, 6:99-103.
-
(2009)
Nat. Methods
, vol.6
, pp. 99-103
-
-
Chiang, D.Y.1
Getz, G.2
Jaffe, D.B.3
O'Kelly, M.J.4
Zhao, X.5
Carter, S.L.6
Russ, C.7
Nusbaum, C.8
Meyerson, M.9
Lander, E.S.10
-
46
-
-
69749122557
-
Sensitive and accurate detection of copy number variants using read depth of coverage
-
Yoon S., Xuan Z., Makarov V., Ye K., Sebat J. Sensitive and accurate detection of copy number variants using read depth of coverage. Genome Res. 2009, 19:1586-1592.
-
(2009)
Genome Res.
, vol.19
, pp. 1586-1592
-
-
Yoon, S.1
Xuan, Z.2
Makarov, V.3
Ye, K.4
Sebat, J.5
-
47
-
-
78049412267
-
Diversity of human copy number variation and multicopy genes
-
Sudmant P.H., Kitzman J.O., Antonacci F., Alkan C., Malig M., Tsalenko A., Sampas N., Bruhn L., Shendure J., Eichler E.E. Diversity of human copy number variation and multicopy genes. Science 2010, 330:641-646.
-
(2010)
Science
, vol.330
, pp. 641-646
-
-
Sudmant, P.H.1
Kitzman, J.O.2
Antonacci, F.3
Alkan, C.4
Malig, M.5
Tsalenko, A.6
Sampas, N.7
Bruhn, L.8
Shendure, J.9
Eichler, E.E.10
-
48
-
-
65449144325
-
Evaluation of next generation sequencing platforms for population targeted sequencing studies
-
Harismendy O., Ng P.C., Strausberg R.L., Wang X., Stockwell T.B., Beeson K.Y., Schork N.J., Murray S.S., Topol E.J., Levy S., Frazer K.A. Evaluation of next generation sequencing platforms for population targeted sequencing studies. Genome Biol. 2009, 10:R32.
-
(2009)
Genome Biol.
, vol.10
-
-
Harismendy, O.1
Ng, P.C.2
Strausberg, R.L.3
Wang, X.4
Stockwell, T.B.5
Beeson, K.Y.6
Schork, N.J.7
Murray, S.S.8
Topol, E.J.9
Levy, S.10
Frazer, K.A.11
-
49
-
-
77950836100
-
Application of Nexus copy number software for CNV detection and analysis
-
Chapter 4, Unit 4 14 11-28
-
Darvishi K. Application of Nexus copy number software for CNV detection and analysis. Curr. Protoc. Hum. Genet. 2010, Chapter 4, Unit 4 14 11-28.
-
(2010)
Curr. Protoc. Hum. Genet.
-
-
Darvishi, K.1
-
50
-
-
76349105934
-
High resolution discovery and confirmation of copy number variants in 90 Yoruba Nigerians
-
Matsuzaki H., Wang P.H., Hu J., Rava R., Fu G.K. High resolution discovery and confirmation of copy number variants in 90 Yoruba Nigerians. Genome Biol. 2009, 10:R125.
-
(2009)
Genome Biol.
, vol.10
-
-
Matsuzaki, H.1
Wang, P.H.2
Hu, J.3
Rava, R.4
Fu, G.K.5
-
51
-
-
77956214749
-
Identifying gene regulatory networks in schizophrenia
-
Potkin S.G., Macciardi F., Guffanti G., Fallon J.H., Wang Q., Turner J.A., Lakatos A., Miles M.F., Lander A., Vawter M.P., Xie X. Identifying gene regulatory networks in schizophrenia. Neuroimage 2010, 53:839-847.
-
(2010)
Neuroimage
, vol.53
, pp. 839-847
-
-
Potkin, S.G.1
Macciardi, F.2
Guffanti, G.3
Fallon, J.H.4
Wang, Q.5
Turner, J.A.6
Lakatos, A.7
Miles, M.F.8
Lander, A.9
Vawter, M.P.10
Xie, X.11
-
52
-
-
77955673258
-
Neuronal DNA content variation (DCV) with regional and individual differences in the human brain
-
Westra J.W., Rivera R.R., Bushman D.M., Yung Y.C., Peterson S.E., Barral S., Chun J. Neuronal DNA content variation (DCV) with regional and individual differences in the human brain. J. Comp. Neurol. 2010, 518:3981-4000.
-
(2010)
J. Comp. Neurol.
, vol.518
, pp. 3981-4000
-
-
Westra, J.W.1
Rivera, R.R.2
Bushman, D.M.3
Yung, Y.C.4
Peterson, S.E.5
Barral, S.6
Chun, J.7
-
53
-
-
20044379205
-
Constitutional aneuploidy in the normal human brain
-
Rehen S.K., Yung Y.C., McCreight M.P., Kaushal D., Yang A.H., Almeida B.S., Kingsbury M.A., Cabral K.M., McConnell M.J., Anliker B., Fontanoz M., Chun J. Constitutional aneuploidy in the normal human brain. J. Neurosci. 2005, 25:2176-2180.
-
(2005)
J. Neurosci.
, vol.25
, pp. 2176-2180
-
-
Rehen, S.K.1
Yung, Y.C.2
McCreight, M.P.3
Kaushal, D.4
Yang, A.H.5
Almeida, B.S.6
Kingsbury, M.A.7
Cabral, K.M.8
McConnell, M.J.9
Anliker, B.10
Fontanoz, M.11
Chun, J.12
-
54
-
-
34447322271
-
Research criteria for the diagnosis of Alzheimer's disease: revising the NINCDS-ADRDA criteria
-
Dubois B., Feldman H.H., Jacova C., Dekosky S.T., Barberger-Gateau P., Cummings J., Delacourte A., Galasko D., Gauthier S., Jicha G., Meguro K., O'Brien J., Pasquier F., Robert P., Rossor M., Salloway S., Stern Y., Visser P.J., Scheltens P. Research criteria for the diagnosis of Alzheimer's disease: revising the NINCDS-ADRDA criteria. Lancet Neurol. 2007, 6:734-746.
-
(2007)
Lancet Neurol.
, vol.6
, pp. 734-746
-
-
Dubois, B.1
Feldman, H.H.2
Jacova, C.3
Dekosky, S.T.4
Barberger-Gateau, P.5
Cummings, J.6
Delacourte, A.7
Galasko, D.8
Gauthier, S.9
Jicha, G.10
Meguro, K.11
O'Brien, J.12
Pasquier, F.13
Robert, P.14
Rossor, M.15
Salloway, S.16
Stern, Y.17
Visser, P.J.18
Scheltens, P.19
-
55
-
-
0021271971
-
Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease
-
McKhann G., Drachman D., Folstein M., Katzman R., Price D., Stadlan E.M. Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease. Neurology 1984, 34:939-944.
-
(1984)
Neurology
, vol.34
, pp. 939-944
-
-
McKhann, G.1
Drachman, D.2
Folstein, M.3
Katzman, R.4
Price, D.5
Stadlan, E.M.6
-
56
-
-
0037044231
-
Rates of progression in mild cognitive impairment and early Alzheimer's disease
-
Storandt M., Grant E.A., Miller J.P., Morris J.C. Rates of progression in mild cognitive impairment and early Alzheimer's disease. Neurology 2002, 59:1034-1041.
-
(2002)
Neurology
, vol.59
, pp. 1034-1041
-
-
Storandt, M.1
Grant, E.A.2
Miller, J.P.3
Morris, J.C.4
-
57
-
-
33144484244
-
Ways toward an early diagnosis in Alzheimer's disease: the Alzheimer's Disease Neuroimaging Initiative (ADNI)
-
Mueller S.G., Weiner M.W., Thal L.J., Petersen R.C., Jack C.R., Jagust W., Trojanowski J.Q., Toga A.W., Beckett L. Ways toward an early diagnosis in Alzheimer's disease: the Alzheimer's Disease Neuroimaging Initiative (ADNI). Alzheimers Dement. 2005, 1:55-66.
-
(2005)
Alzheimers Dement.
, vol.1
, pp. 55-66
-
-
Mueller, S.G.1
Weiner, M.W.2
Thal, L.J.3
Petersen, R.C.4
Jack, C.R.5
Jagust, W.6
Trojanowski, J.Q.7
Toga, A.W.8
Beckett, L.9
-
58
-
-
3543105225
-
Circular binary segmentation for the analysis of array-based DNA copy number data
-
Olshen A.B., Venkatraman E.S., Lucito R., Wigler M. Circular binary segmentation for the analysis of array-based DNA copy number data. Biostatistics 2004, 5:557-572.
-
(2004)
Biostatistics
, vol.5
, pp. 557-572
-
-
Olshen, A.B.1
Venkatraman, E.S.2
Lucito, R.3
Wigler, M.4
-
59
-
-
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., Sham P.C. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet. 2007, 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
Sham, P.C.11
-
60
-
-
61449172037
-
Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources
-
Huang D.W., Sherman B.T., Lempicki R.A. Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources. Nat. Protoc. 2009, 4:44-57.
-
(2009)
Nat. Protoc.
, vol.4
, pp. 44-57
-
-
Huang, D.W.1
Sherman, B.T.2
Lempicki, R.A.3
-
61
-
-
67651089508
-
Improved protocols for the illumina genome analyzer sequencing system
-
Chapter 18 (2009) Unit 18 12
-
Quail M.A., Swerdlow H., Turner D.J. Improved protocols for the illumina genome analyzer sequencing system. Curr. Protoc. Hum. Genet. 2009, Chapter 18 (2009) Unit 18 12.
-
(2009)
Curr. Protoc. Hum. Genet.
-
-
Quail, M.A.1
Swerdlow, H.2
Turner, D.J.3
-
62
-
-
67649884743
-
Fast and accurate short read alignment with Burrows-Wheeler transform
-
Li H., Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 2009, 25:1754-1760.
-
(2009)
Bioinformatics
, vol.25
, pp. 1754-1760
-
-
Li, H.1
Durbin, R.2
-
63
-
-
55549089660
-
Accurate whole human genome sequencing using reversible terminator chemistry
-
Bentley D.R., Balasubramanian S., Swerdlow H.P., Smith G.P., Milton J., Brown C.G., Hall K.P., Evers D.J., Barnes C.L., Bignell H.R., Boutell J.M., Bryant J., Carter R.J., Keira Cheetham R., Cox A.J., Ellis D.J., Flatbush M.R., Gormley N.A., Humphray S.J., Irving L.J., Karbelashvili M.S., Kirk S.M., Li H., Liu X., Maisinger K.S., Murray L.J., Obradovic B., Ost T., Parkinson M.L., Pratt M.R., Rasolonjatovo I.M., Reed M.T., Rigatti R., Rodighiero C., Ross M.T., Sabot A., Sankar S.V., Scally A., Schroth G.P., Smith M.E., Smith V.P., Spiridou A., Torrance P.E., Tzonev S.S., Vermaas E.H., Walter K., Wu X., Zhang L., Alam M.D., Anastasi C., Aniebo I.C., Bailey D.M., Bancarz I.R., Banerjee S., Barbour S.G., Baybayan P.A., Benoit V.A., Benson K.F., Bevis C., Black P.J., Boodhun A., Brennan J.S., Bridgham J.A., Brown R.C., Brown A.A., Buermann D.H., Bundu A.A., Burrows J.C., Carter N.P., Castillo N., Chiara E.C.M., Chang S., Neil Cooley R., Crake N.R., Dada O.O., Diakoumakos K.D., Dominguez-Fernandez B., Earnshaw D.J., Egbujor U.C., Elmore D.W., Etchin S.S., Ewan M.R., Fedurco M., Fraser L.J., Fuentes Fajardo K.V., Scott Furey W., George D., Gietzen K.J., Goddard C.P., Golda G.S., Granieri P.A., Green D.E., Gustafson D.L., Hansen N.F., Harnish K., Haudenschild C.D., Heyer N.I., Hims M.M., Ho J.T., Horgan A.M., Hoschler K., Hurwitz S., Ivanov D.V., Johnson M.Q., James T., Huw Jones T.A., Kang G.D., Kerelska T.H., Kersey A.D., Khrebtukova I., Kindwall A.P., Kingsbury Z., Kokko-Gonzales P.I., Kumar A., Laurent M.A., Lawley C.T., Lee S.E., Lee X., Liao A.K., Loch J.A., Lok M., Luo S., Mammen R.M., Martin J.W., McCauley P.G., McNitt P., Mehta P., Moon K.W., Mullens J.W., Newington T., Ning Z., Ling Ng B., Novo S.M., O'Neill M.J., Osborne M.A., Osnowski A., Ostadan O., Paraschos L.L., Pickering L., Pike A.C., Chris Pinkard D., Pliskin D.P., Podhasky J., Quijano V.J., Raczy C., Rae V.H., Rawlings S.R., Chiva Rodriguez A., Roe P.M., Rogers J., Rogert Bacigalupo M.C., Romanov N., Romieu A., Roth R.K., Rourke N.J., Ruediger S.T., Rusman E., Sanches-Kuiper R.M., Schenker M.R., Seoane J.M., Shaw R.J., Shiver M.K., Short S.W., Sizto N.L., Sluis J.P., Smith M.A., Ernest Sohna Sohna J., Spence E.J., Stevens K., Sutton N., Szajkowski L., Tregidgo C.L., Turcatti G., Vandevondele S., Verhovsky Y., Virk S.M., Wakelin S., Walcott G.C., Wang J., Worsley G.J., Yan J., Yau L., Zuerlein M., Mullikin J.C., Hurles M.E., McCooke N.J., West J.S., Oaks F.L., Lundberg P.L., Klenerman D., Durbin R., Smith A.J. Accurate whole human genome sequencing using reversible terminator chemistry. Nature 2008, 456:53-59.
-
(2008)
Nature
, vol.456
, pp. 53-59
-
-
Bentley, D.R.1
Balasubramanian, S.2
Swerdlow, H.P.3
Smith, G.P.4
Milton, J.5
Brown, C.G.6
Hall, K.P.7
Evers, D.J.8
Barnes, C.L.9
Bignell, H.R.10
Boutell, J.M.11
Bryant, J.12
Carter, R.J.13
Keira Cheetham, R.14
Cox, A.J.15
Ellis, D.J.16
Flatbush, M.R.17
Gormley, N.A.18
Humphray, S.J.19
Irving, L.J.20
Karbelashvili, M.S.21
Kirk, S.M.22
Li, H.23
Liu, X.24
Maisinger, K.S.25
Murray, L.J.26
Obradovic, B.27
Ost, T.28
Parkinson, M.L.29
Pratt, M.R.30
Rasolonjatovo, I.M.31
Reed, M.T.32
Rigatti, R.33
Rodighiero, C.34
Ross, M.T.35
Sabot, A.36
Sankar, S.V.37
Scally, A.38
Schroth, G.P.39
Smith, M.E.40
Smith, V.P.41
Spiridou, A.42
Torrance, P.E.43
Tzonev, S.S.44
Vermaas, E.H.45
Walter, K.46
Wu, X.47
Zhang, L.48
Alam, M.D.49
Anastasi, C.50
Aniebo, I.C.51
Bailey, D.M.52
Bancarz, I.R.53
Banerjee, S.54
Barbour, S.G.55
Baybayan, P.A.56
Benoit, V.A.57
Benson, K.F.58
Bevis, C.59
Black, P.J.60
Boodhun, A.61
Brennan, J.S.62
Bridgham, J.A.63
Brown, R.C.64
Brown, A.A.65
Buermann, D.H.66
Bundu, A.A.67
Burrows, J.C.68
Carter, N.P.69
Castillo, N.70
Chiara, E.C.M.71
Chang, S.72
Neil Cooley, R.73
Crake, N.R.74
Dada, O.O.75
Diakoumakos, K.D.76
Dominguez-Fernandez, B.77
Earnshaw, D.J.78
Egbujor, U.C.79
Elmore, D.W.80
Etchin, S.S.81
Ewan, M.R.82
Fedurco, M.83
Fraser, L.J.84
Fuentes Fajardo, K.V.85
Scott Furey, W.86
George, D.87
Gietzen, K.J.88
Goddard, C.P.89
Golda, G.S.90
Granieri, P.A.91
Green, D.E.92
Gustafson, D.L.93
Hansen, N.F.94
Harnish, K.95
Haudenschild, C.D.96
Heyer, N.I.97
Hims, M.M.98
Ho, J.T.99
more..
-
64
-
-
78049416608
-
The characterization of twenty sequenced human genomes
-
Pelak K., Shianna K.V., Ge D., Maia J.M., Zhu M., Smith J.P., Cirulli E.T., Fellay J., Dickson S.P., Gumbs C.E., Heinzen E.L., Need A.C., Ruzzo E.K., Singh A., Campbell C.R., Hong L.K., Lornsen K.A., McKenzie A.M., Sobreira N.L., Hoover-Fong J.E., Milner J.D., Ottman R., Haynes B.F., Goedert J.J., Goldstein D.B. The characterization of twenty sequenced human genomes. PLoS Genet. 2010, 6.
-
(2010)
PLoS Genet.
, vol.6
-
-
Pelak, K.1
Shianna, K.V.2
Ge, D.3
Maia, J.M.4
Zhu, M.5
Smith, J.P.6
Cirulli, E.T.7
Fellay, J.8
Dickson, S.P.9
Gumbs, C.E.10
Heinzen, E.L.11
Need, A.C.12
Ruzzo, E.K.13
Singh, A.14
Campbell, C.R.15
Hong, L.K.16
Lornsen, K.A.17
McKenzie, A.M.18
Sobreira, N.L.19
Hoover-Fong, J.E.20
Milner, J.D.21
Ottman, R.22
Haynes, B.F.23
Goedert, J.J.24
Goldstein, D.B.25
more..
|