-
1
-
-
64149123778
-
Next-generation sequencing: from basic research to diagnostics
-
Voelkerding KV, Dames SA, Durtschi JD: Next-generation sequencing: from basic research to diagnostics. Clin Chem 2009, 55:641-658.
-
(2009)
Clin Chem
, vol.55
, pp. 641-658
-
-
Voelkerding, K.V.1
Dames, S.A.2
Durtschi, J.D.3
-
2
-
-
84975795680
-
An integrated map of genetic variation from 1, 092 human genomes
-
Genomes Project C, Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, Kang HM, Marth GT, McVean GA: An integrated map of genetic variation from 1, 092 human genomes. Nature 2012, 491:56-65.
-
(2012)
Nature
, vol.491
, pp. 56-65
-
-
Genomes Project, C.1
Abecasis, G.R.2
Auton, A.3
Brooks, L.D.4
DePristo, M.A.5
Durbin, R.M.6
Handsaker, R.E.7
Kang, H.M.8
Marth, G.T.9
McVean, G.A.10
-
4
-
-
84892798985
-
The Genome of the Netherlands: design, and project goals
-
Boomsma DI, Wijmenga C, Slagboom EP, Swertz MA, Karssen LC, Abdellaoui A, Ye K, Guryev V, Vermaat M, van Dijk F, Francioli LC, Hottenga JJ, Laros JF, Li Q, Li Y, Cao H, Chen R, Du Y, Li N, Cao S, van Setten J, Menelaou A, Pulit SL, Hehir-Kwa JY, Beekman M, Elbers CC, Byelas H, de Craen AJ, Deelen P, Dijkstra M, et al: The Genome of the Netherlands: design, and project goals. Eur J Hum Genet 2014, 22:221-227.
-
(2014)
Eur J Hum Genet
, vol.22
, pp. 221-227
-
-
Boomsma, D.I.1
Wijmenga, C.2
Slagboom, E.P.3
Swertz, M.A.4
Karssen, L.C.5
Abdellaoui, A.6
Ye, K.7
Guryev, V.8
Vermaat, M.9
van Dijk, F.10
Francioli, L.C.11
Hottenga, J.J.12
Laros, J.F.13
Li, Q.14
Li, Y.15
Cao, H.16
Chen, R.17
Du, Y.18
Li, N.19
Cao, S.20
van Setten, J.21
Menelaou, A.22
Pulit, S.L.23
Hehir-Kwa, J.Y.24
Beekman, M.25
Elbers, C.C.26
Byelas, H.27
de Craen, A.J.28
Deelen, P.29
Dijkstra, M.30
more..
-
5
-
-
84989311487
-
-
DNA Sequencing Costs: Data from the NHGRI Genome Sequencing Program (GSP) [http://www.genome.gov/sequencingcosts].
-
-
-
-
7
-
-
78049357122
-
Human genome: Genomes by the thousand
-
Human genome: Genomes by the thousand. Nature 2010, 467:1026-1027.
-
(2010)
Nature
, vol.467
, pp. 1026-1027
-
-
-
8
-
-
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, Genome Project Data Processing S: The Sequence Alignment/Map format and SAMtools. Bioinformatics 2009, 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
Genome Project Data Processing, S.10
-
9
-
-
79951493627
-
On the future of genomic data
-
Kahn SD: On the future of genomic data. Science 2011, 331:728-729.
-
(2011)
Science
, vol.331
, pp. 728-729
-
-
Kahn, S.D.1
-
10
-
-
0035865322
-
A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms
-
Sachidanandam R, Weissman D, Schmidt SC, Kakol JM, Stein LD, Marth G, Sherry S, Mullikin JC, Mortimore BJ, Willey DL, Hunt SE, Cole CG, Coggill PC, Rice CM, Ning Z, Rogers J, Bentley DR, Kwok PY, Mardis ER, Yeh RT, Schultz B, Cook L, Davenport R, Dante M, Fulton L, Hillier L, Waterston RH, McPherson JD, Gilman B, Schaffner S, et al: A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature 2001, 409:928-933.
-
(2001)
Nature
, vol.409
, pp. 928-933
-
-
Sachidanandam, R.1
Weissman, D.2
Schmidt, S.C.3
Kakol, J.M.4
Stein, L.D.5
Marth, G.6
Sherry, S.7
Mullikin, J.C.8
Mortimore, B.J.9
Willey, D.L.10
Hunt, S.E.11
Cole, C.G.12
Coggill, P.C.13
Rice, C.M.14
Ning, Z.15
Rogers, J.16
Bentley, D.R.17
Kwok, P.Y.18
Mardis, E.R.19
Yeh, R.T.20
Schultz, B.21
Cook, L.22
Davenport, R.23
Dante, M.24
Fulton, L.25
Hillier, L.26
Waterston, R.H.27
McPherson, J.D.28
Gilman, B.29
Schaffner, S.30
more..
-
11
-
-
84864988834
-
-
Summaries of EU Legislation: Protection of personal data [http://europa.eu/legislation_summaries/information_society/data_protection/l14012_en.htm].
-
Protection of personal data
-
-
-
12
-
-
84989283867
-
-
Wikipedia, Data Protection Directive [http://en.wikipedia.org/wiki/Data_Protection_Directive].
-
-
-
-
13
-
-
77956077955
-
Scale-out networking in the data center
-
Vahdat A, Al-Fares M, Farrington N, Mysore RN, Porter G, Radhakrishnan S: Scale-out networking in the data center. Ieee Micro 2010, 30:29-41.
-
(2010)
Ieee Micro
, vol.30
, pp. 29-41
-
-
Vahdat, A.1
Al-Fares, M.2
Farrington, N.3
Mysore, R.N.4
Porter, G.5
Radhakrishnan, S.6
-
14
-
-
78651320424
-
The UCSC Genome Browser database: update 2011
-
Fujita PA, Rhead B, Zweig AS, Hinrichs AS, Karolchik D, Cline MS, Goldman M, Barber GP, Clawson H, Coelho A, Diekhans M, Dreszer TR, Giardine BM, Harte RA, Hillman-Jackson J, Hsu F, Kirkup V, Kuhn RM, Learned K, Li CH, Meyer LR, Pohl A, Raney BJ, Rosenbloom KR, Smith KE, Haussler D, Kent WJ: The UCSC Genome Browser database: update 2011. Nucleic Acids Res 2011, 39:D876-882.
-
(2011)
Nucleic Acids Res
, vol.39
, pp. D876-D882
-
-
Fujita, P.A.1
Rhead, B.2
Zweig, A.S.3
Hinrichs, A.S.4
Karolchik, D.5
Cline, M.S.6
Goldman, M.7
Barber, G.P.8
Clawson, H.9
Coelho, A.10
Diekhans, M.11
Dreszer, T.R.12
Giardine, B.M.13
Harte, R.A.14
Hillman-Jackson, J.15
Hsu, F.16
Kirkup, V.17
Kuhn, R.M.18
Learned, K.19
Li, C.H.20
Meyer, L.R.21
Pohl, A.22
Raney, B.J.23
Rosenbloom, K.R.24
Smith, K.E.25
Haussler, D.26
Kent, W.J.27
more..
-
15
-
-
77956295988
-
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data
-
McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M, DePristo MA: The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 2010, 20:1297-1303.
-
(2010)
Genome Res
, vol.20
, pp. 1297-1303
-
-
McKenna, A.1
Hanna, M.2
Banks, E.3
Sivachenko, A.4
Cibulskis, K.5
Kernytsky, A.6
Garimella, K.7
Altshuler, D.8
Gabriel, S.9
Daly, M.10
DePristo, M.A.11
-
16
-
-
79960405019
-
The variant call format and VCFtools
-
Danecek P, Auton A, Abecasis G, Albers CA, Banks E, DePristo MA, Handsaker RE, Lunter G, Marth GT, Sherry ST, McVean G, Durbin R, Genomes Project Analysis G: The variant call format and VCFtools. Bioinformatics 2011, 27:2156-2158.
-
(2011)
Bioinformatics
, vol.27
, pp. 2156-2158
-
-
Danecek, P.1
Auton, A.2
Abecasis, G.3
Albers, C.A.4
Banks, E.5
DePristo, M.A.6
Handsaker, R.E.7
Lunter, G.8
Marth, G.T.9
Sherry, S.T.10
McVean, G.11
Durbin, R.12
Genomes Project Analysis, G.13
-
17
-
-
84859423484
-
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome
-
Van Houdt JK, Nowakowska BA, Sousa SB, van Schaik BD, Seuntjens E, Avonce N, Sifrim A, Abdul-Rahman OA, van den Boogaard MJ, Bottani A, Castori M, Cormier-Daire V, DeardorffMA, Filges I, Fryer A, Fryns JP, Gana S, Garavelli L, Gillessen-Kaesbach G, Hall BD, Horn D, Huylebroeck D, Klapecki J, Krajewska-Walasek M, Kuechler A, Lines MA, Maas S, Macdermot KD, McKee S, Magee A, et al: Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. Nat Genet 2012, 44:445-449. S441.
-
(2012)
Nat Genet
, vol.44
-
-
Van Houdt, J.K.1
Nowakowska, B.A.2
Sousa, S.B.3
van Schaik, B.D.4
Seuntjens, E.5
Avonce, N.6
Sifrim, A.7
Abdul-Rahman, O.A.8
van den Boogaard, M.J.9
Bottani, A.10
Castori, M.11
Cormier-Daire, V.12
Deardorff, M.A.13
Filges, I.14
Fryer, A.15
Fryns, J.P.16
Gana, S.17
Garavelli, L.18
Gillessen-Kaesbach, G.19
Hall, B.D.20
Horn, D.21
Huylebroeck, D.22
Klapecki, J.23
Krajewska-Walasek, M.24
Kuechler, A.25
Lines, M.A.26
Maas, S.27
Macdermot, K.D.28
McKee, S.29
Magee, A.30
more..
-
18
-
-
84891750628
-
NCBI's Database of Genotypes and Phenotypes: dbGaP
-
Tryka KA, Hao L, Sturcke A, Jin Y, Wang ZY, Ziyabari L, Lee M, Popova N, Sharopova N, Kimura M, Feolo M: NCBI's Database of Genotypes and Phenotypes: dbGaP. Nucleic Acids Res 2014, 42:D975-979.
-
(2014)
Nucleic Acids Res
, vol.42
, pp. D975-D979
-
-
Tryka, K.A.1
Hao, L.2
Sturcke, A.3
Jin, Y.4
Wang, Z.Y.5
Ziyabari, L.6
Lee, M.7
Popova, N.8
Sharopova, N.9
Kimura, M.10
Feolo, M.11
|