-
1
-
-
53649088131
-
Applications of next-generation sequencing technologies in functional genomics
-
Morozova O., Marra M.A. Applications of next-generation sequencing technologies in functional genomics. Genomics 2008, 92:255-264.
-
(2008)
Genomics
, vol.92
, pp. 255-264
-
-
Morozova, O.1
Marra, M.A.2
-
2
-
-
53649106195
-
Next-generation DNA sequencing
-
Shendure J., Ji H. Next-generation DNA sequencing. Nat. Biotechnol. 2008, 26:1135-1145.
-
(2008)
Nat. Biotechnol.
, vol.26
, pp. 1135-1145
-
-
Shendure, J.1
Ji, H.2
-
3
-
-
79953167500
-
The next-generation sequencing technology and application
-
Zhou X., Ren L., Meng Q., Li Y., Yu Y., et al. The next-generation sequencing technology and application. Protein Cell 2010, 1:520-536.
-
(2010)
Protein Cell
, vol.1
, pp. 520-536
-
-
Zhou, X.1
Ren, L.2
Meng, Q.3
Li, Y.4
Yu, Y.5
-
4
-
-
23644449057
-
Direct genomic selection
-
Bashiardes S., Veile R., Helms C., Mardis E.R., Bowcock A.M., et al. Direct genomic selection. Nat. Methods 2005, 2:63-69.
-
(2005)
Nat. Methods
, vol.2
, pp. 63-69
-
-
Bashiardes, S.1
Veile, R.2
Helms, C.3
Mardis, E.R.4
Bowcock, A.M.5
-
5
-
-
27244436950
-
Multiplex amplification enabled by selective circularization of large sets of genomic DNA fragments
-
Dahl F., Gullberg M., Stenberg J., Landegren U., Nilsson M. Multiplex amplification enabled by selective circularization of large sets of genomic DNA fragments. Nucleic Acids Res. 2005, 33:e71.
-
(2005)
Nucleic Acids Res.
, vol.33
-
-
Dahl, F.1
Gullberg, M.2
Stenberg, J.3
Landegren, U.4
Nilsson, M.5
-
6
-
-
35748959649
-
Microarray-based genomic selection for high-throughput resequencing
-
Okou D.T., Steinberg K.M., Middle C., Cutler D.J., Albert T.J., et al. Microarray-based genomic selection for high-throughput resequencing. Nat. Methods 2007, 4:907-909.
-
(2007)
Nat. Methods
, vol.4
, pp. 907-909
-
-
Okou, D.T.1
Steinberg, K.M.2
Middle, C.3
Cutler, D.J.4
Albert, T.J.5
-
7
-
-
35748951614
-
Direct selection of human genomic loci by microarray hybridization
-
Albert T.J., Molla M.N., Muzny D.M., Nazareth L., Wheeler D., et al. Direct selection of human genomic loci by microarray hybridization. Nat. Methods 2007, 4:903-905.
-
(2007)
Nat. Methods
, vol.4
, pp. 903-905
-
-
Albert, T.J.1
Molla, M.N.2
Muzny, D.M.3
Nazareth, L.4
Wheeler, D.5
-
8
-
-
35748953750
-
Multiplex amplification of large sets of human exons
-
Porreca G.J., Zhang K., Li J.B., Xie B., Austin D., et al. Multiplex amplification of large sets of human exons. Nat. Methods 2007, 4:931-936.
-
(2007)
Nat. Methods
, vol.4
, pp. 931-936
-
-
Porreca, G.J.1
Zhang, K.2
Li, J.B.3
Xie, B.4
Austin, D.5
-
9
-
-
34249858340
-
Multiplex amplification of all coding sequences within 10 cancer genes by gene-collector
-
Fredriksson S., Banér J., Dahl F., Chu A., Ji H., et al. Multiplex amplification of all coding sequences within 10 cancer genes by gene-collector. Nucleic Acids Res. 2007, 35:e47.
-
(2007)
Nucleic Acids Res.
, vol.35
-
-
Fredriksson, S.1
Banér, J.2
Dahl, F.3
Chu, A.4
Ji, H.5
-
10
-
-
68549127109
-
Combining microarray-based genomic selection (MGS) with the Illumina Genome Analyzer platform to sequence diploid target regions
-
Okou D.T., Locke A.E., Steinberg K.M., Hagen K., Athri P., et al. Combining microarray-based genomic selection (MGS) with the Illumina Genome Analyzer platform to sequence diploid target regions. Ann. Hum. Genet. 2009, 73:502-513.
-
(2009)
Ann. Hum. Genet.
, vol.73
, pp. 502-513
-
-
Okou, D.T.1
Locke, A.E.2
Steinberg, K.M.3
Hagen, K.4
Athri, P.5
-
11
-
-
70449339945
-
Microdroplet-based PCR enrichment for large-scale targeted sequencing
-
Tewhey R., Warner J., Nakano M., Libby B., Medkova M., et al. Microdroplet-based PCR enrichment for large-scale targeted sequencing. Nat. Biotechnol. 2009, 27:1025-1031.
-
(2009)
Nat. Biotechnol.
, vol.27
, pp. 1025-1031
-
-
Tewhey, R.1
Warner, J.2
Nakano, M.3
Libby, B.4
Medkova, M.5
-
12
-
-
75349097525
-
Enrichment of sequencing targets from the human genome by solution hybridization
-
Tewhey R., Nakano M., Wang X., Pabón-Peña C., Novak B., et al. Enrichment of sequencing targets from the human genome by solution hybridization. Genome Biol. 2009, 10:R116.
-
(2009)
Genome Biol.
, vol.10
-
-
Tewhey, R.1
Nakano, M.2
Wang, X.3
Pabón-Peña, C.4
Novak, B.5
-
13
-
-
59849113821
-
Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing
-
Gnirke A., Melnikov A., Maguire J., Rogov P., LeProust E.M., et al. Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing. Nat. Biotechnol. 2009, 27:182-189.
-
(2009)
Nat. Biotechnol.
, vol.27
, pp. 182-189
-
-
Gnirke, A.1
Melnikov, A.2
Maguire, J.3
Rogov, P.4
LeProust, E.M.5
-
14
-
-
77953565946
-
Whole exome capture in solution with 3Gbp of data
-
Bainbridge M.N., Wang M., Burgess D.L., Kovar C., Rodesch M.J., et al. Whole exome capture in solution with 3Gbp of data. Genome Biol. 2010, 11:R62.
-
(2010)
Genome Biol.
, vol.11
-
-
Bainbridge, M.N.1
Wang, M.2
Burgess, D.L.3
Kovar, C.4
Rodesch, M.J.5
-
15
-
-
80053332371
-
Microarray oligonucleotide probe designer (MOPeD): a web service
-
Patel V.C., Mondal K., Shetty A.C., Horner V.L., Bedoyan J.K., et al. Microarray oligonucleotide probe designer (MOPeD): a web service. Open Access Bioinformatics 2010, 2:145-155.
-
(2010)
Open Access Bioinformatics
, vol.2
, pp. 145-155
-
-
Patel, V.C.1
Mondal, K.2
Shetty, A.C.3
Horner, V.L.4
Bedoyan, J.K.5
-
16
-
-
33745423084
-
Overview: methods and applications for droplet compartmentalization of biology
-
Leamon J.H., Link D.R., Egholm M., Rothberg J.M. Overview: methods and applications for droplet compartmentalization of biology. Nat. Methods 2006, 3:541-543.
-
(2006)
Nat. Methods
, vol.3
, pp. 541-543
-
-
Leamon, J.H.1
Link, D.R.2
Egholm, M.3
Rothberg, J.M.4
-
17
-
-
78651393550
-
Carrier testing for severe childhood recessive diseases by next-generation sequencing
-
Bell C.J., Dinwiddie D.L., Miller N.A., Hateley S.L., Ganusova E.E., et al. Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci. Transl. Med. 2011, 3:65ra4.
-
(2011)
Sci. Transl. Med.
, vol.3
-
-
Bell, C.J.1
Dinwiddie, D.L.2
Miller, N.A.3
Hateley, S.L.4
Ganusova, E.E.5
-
18
-
-
15244363491
-
The DNA sequence of the human X chromosome
-
Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., et al. The DNA sequence of the human X chromosome. Nature 2005, 434:325-337.
-
(2005)
Nature
, vol.434
, pp. 325-337
-
-
Ross, M.T.1
Grafham, D.V.2
Coffey, A.J.3
Scherer, S.4
McLay, K.5
-
19
-
-
77957968873
-
Genetics of early onset cognitive impairment
-
Ropers H.H. Genetics of early onset cognitive impairment. Annu. Rev. Genomics Hum. Genet. 2010, 11:161-187.
-
(2010)
Annu. Rev. Genomics Hum. Genet.
, vol.11
, pp. 161-187
-
-
Ropers, H.H.1
-
20
-
-
77955563933
-
Disruption at the PTCHD1 locus on Xp22.11 in autism spectrum disorder and intellectual disability
-
Noor A., Whibley A., Marshall C.R., Gianakopoulos P.J., Piton A., et al. Disruption at the PTCHD1 locus on Xp22.11 in autism spectrum disorder and intellectual disability. Sci. Transl. Med. 2010, 2:49ra68.
-
(2010)
Sci. Transl. Med.
, vol.2
-
-
Noor, A.1
Whibley, A.2
Marshall, C.R.3
Gianakopoulos, P.J.4
Piton, A.5
-
21
-
-
79960837617
-
Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia
-
doi:10.1038/mp.2010.54
-
Piton A., Gauthier J., Hamdan F.F., Lafrenière R.G., Yang Y., et al. Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia. Mol. Psychiatry 2010, doi:10.1038/mp.2010.54.
-
(2010)
Mol. Psychiatry
-
-
Piton, A.1
Gauthier, J.2
Hamdan, F.F.3
Lafrenière, R.G.4
Yang, Y.5
-
22
-
-
77951559056
-
A unified theory of autism revisited: linkage evidence points to chromosome X using a high-risk subset of AGRE families
-
Allen-Brady K., Cannon D., Robison R., McMahon W.M., Coon H. A unified theory of autism revisited: linkage evidence points to chromosome X using a high-risk subset of AGRE families. Autism Res. 2010, 3:47-52.
-
(2010)
Autism Res.
, vol.3
, pp. 47-52
-
-
Allen-Brady, K.1
Cannon, D.2
Robison, R.3
McMahon, W.M.4
Coon, H.5
-
23
-
-
66749148353
-
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
-
Tarpey P., Smith R., Pleasance E., Whibley A., Edkins S., et al. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat. Genet. 2009, 41:535-543.
-
(2009)
Nat. Genet.
, vol.41
, pp. 535-543
-
-
Tarpey, P.1
Smith, R.2
Pleasance, E.3
Whibley, A.4
Edkins, S.5
-
25
-
-
51549094171
-
Microarray-based mutation detection in the dystrophin gene
-
Hegde M.R., Chin E.L., Mulle J.G., Okou D.T., Warren S.T., et al. Microarray-based mutation detection in the dystrophin gene. Hum. Mutat. 2008, 29:1091-1099.
-
(2008)
Hum. Mutat.
, vol.29
, pp. 1091-1099
-
-
Hegde, M.R.1
Chin, E.L.2
Mulle, J.G.3
Okou, D.T.4
Warren, S.T.5
-
26
-
-
79952117804
-
Empirical evaluation of oligonucleotide probe selection for DNA microarrays
-
Mulle J.G., Patel V.C., Warren S.T., Hegde M.R., Cutler D.J., et al. Empirical evaluation of oligonucleotide probe selection for DNA microarrays. PLoS One 2010, 5:e9921.
-
(2010)
PLoS One
, vol.5
-
-
Mulle, J.G.1
Patel, V.C.2
Warren, S.T.3
Hegde, M.R.4
Cutler, D.J.5
-
27
-
-
77954158696
-
Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center
-
Takeshima Y., Yagi M., Okizuka Y., Awano H., Zhang Z., et al. Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center. J. Hum. Genet. 2010, 55:379-388.
-
(2010)
J. Hum. Genet.
, vol.55
, pp. 379-388
-
-
Takeshima, Y.1
Yagi, M.2
Okizuka, Y.3
Awano, H.4
Zhang, Z.5
-
28
-
-
79959524146
-
A haplotype map of the human genome
-
Consortium IH.
-
Consortium IH A haplotype map of the human genome. Nature 2005, 437:1299-1320.
-
(2005)
Nature
, vol.437
, pp. 1299-1320
-
-
-
29
-
-
35348983887
-
A second generation human haplotype map of over 3.1million SNPs
-
Consortium I.H., Frazer K., Ballinger D.G., Cox D.R., Hinds D.A., et al. A second generation human haplotype map of over 3.1million SNPs. Nature 2007, 449:851-861.
-
(2007)
Nature
, vol.449
, pp. 851-861
-
-
Consortium, I.H.1
Frazer, K.2
Ballinger, D.G.3
Cox, D.R.4
Hinds, D.A.5
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