-
1
-
-
79957932376
-
Dindel: accurate indel calls from short-read data
-
Albers CA, Lunter G, MacArthur DG, McVean G, Ouwehand WH, Durbin R. 2011. Dindel: accurate indel calls from short-read data. Genome Res 21:961-973.
-
(2011)
Genome Res
, vol.21
, pp. 961-973
-
-
Albers, C.A.1
Lunter, G.2
MacArthur, D.G.3
McVean, G.4
Ouwehand, W.H.5
Durbin, R.6
-
2
-
-
35748951614
-
Direct selection of human genomic loci by microarray hybridization
-
Albert TJ, Molla MN, Muzny DM, Nazareth L, Wheeler D, Song X, Richmond TA, Middle CM, Rodesch MJ, Packard CJ, Weinstock GM, Gibbs RA. 2007. Direct selection of human genomic loci by microarray hybridization. Nat Methods 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
Song, X.6
Richmond, T.A.7
Middle, C.M.8
Rodesch, M.J.9
Packard, C.J.10
Weinstock, G.M.11
Gibbs, R.A.12
-
3
-
-
80053355174
-
Comprehensive comparison of three commercial human whole-exome capture platforms
-
Asan NF, Xu Y, Jiang H, Tyler-Smith C, Xue Y, Jiang T, Wang J, Wu M, Liu X, Tian G, Wang J, Yang H, Zhang X. 2011. Comprehensive comparison of three commercial human whole-exome capture platforms. Genome Biol 12:R95.
-
(2011)
Genome Biol
, vol.12
-
-
Asan, N.F.1
Xu, Y.2
Jiang, H.3
Tyler-Smith, C.4
Xue, Y.5
Jiang, T.6
Wang, J.7
Wu, M.8
Liu, X.9
Tian, G.10
Wang, J.11
Yang, H.12
Zhang, X.13
-
4
-
-
80054757012
-
Performance comparison of exome DNA sequencing technologies
-
Clark MJ, Chen R, Lam HYK, Karczewski KJ, Chen R, Euskirchen G, Butte AJ, Snyder M. 2011. Performance comparison of exome DNA sequencing technologies. Nat Biotechnol 29:908-914.
-
(2011)
Nat Biotechnol
, vol.29
, pp. 908-914
-
-
Clark, M.J.1
Chen, R.2
Lam, H.Y.K.3
Karczewski, K.J.4
Chen, R.5
Euskirchen, G.6
Butte, A.J.7
Snyder, M.8
-
5
-
-
59849113821
-
Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing
-
Gnirke A, Melnikov A, Maguire J, Rogov P, LeProust EM, Brockman W, Fennell T, Giannoukos G, Fisher S, Russ C, Gabriel S, Jaffe DB, Lander ES, Nusbaum C. 2009. Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing. Nat Biotechnol 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
Brockman, W.6
Fennell, T.7
Giannoukos, G.8
Fisher, S.9
Russ, C.10
Gabriel, S.11
Jaffe, D.B.12
Lander, E.S.13
Nusbaum, C.14
-
6
-
-
79955852297
-
Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss
-
Huebner AK, Gandia M, Frommolt P, Maak A, Wicklein EM, Thiele H, Altmüller J, Wagner F, Viñuela A, Aguirre LA, Moreno F, Maier H, Rau I, Gießelmann S, Nürnberg G, Gal A, Nürnberg P, Hübner CA, del Castillo I, Kurth I. 2011. Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss. Am J Hum Genet 88:1-7.
-
(2011)
Am J Hum Genet
, vol.88
, pp. 1-7
-
-
Huebner, A.K.1
Gandia, M.2
Frommolt, P.3
Maak, A.4
Wicklein, E.M.5
Thiele, H.6
Altmüller, J.7
Wagner, F.8
Viñuela, A.9
Aguirre, L.A.10
Moreno, F.11
Maier, H.12
Rau, I.13
Gießelmann, S.14
Nürnberg, G.15
Gal, A.16
Nürnberg, P.17
Hübner, C.A.18
del Castillo, I.19
Kurth, I.20
more..
-
7
-
-
79951793697
-
Performance of microarray and liquid based capture methods for target enrichment for massively parallel sequencing and SNP discovery
-
Kiialainen A, Karlberg O, Ahlford A, Sigurdsson S, Lindblad-Toh K, Syvänen AC. 2011. Performance of microarray and liquid based capture methods for target enrichment for massively parallel sequencing and SNP discovery. PLoS One 6:e16486.
-
(2011)
PLoS One
, vol.6
-
-
Kiialainen, A.1
Karlberg, O.2
Ahlford, A.3
Sigurdsson, S.4
Lindblad-Toh, K.5
Syvänen, A.C.6
-
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. 2009. The sequence alignment/map format and SAMtools. Bioinformatics 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
-
9
-
-
77449121614
-
Target enrichment strategies for next-generation sequencing
-
Mamanova L, Coffey AJ, Scott CE, Kozarewa I, Turner EH, Kumar A, Howard E, Shendure J, Turner DJ. 2010. Target enrichment strategies for next-generation sequencing. Nat Methods 7:111-118.
-
(2010)
Nat Methods
, vol.7
, pp. 111-118
-
-
Mamanova, L.1
Coffey, A.J.2
Scott, C.E.3
Kozarewa, I.4
Turner, E.H.5
Kumar, A.6
Howard, E.7
Shendure, J.8
Turner, D.J.9
-
10
-
-
46249106990
-
Mapping and quantifying mammalian transcriptomes by RNA-Seq
-
Mortazavi A, Williams BA, McCue K, Schaeffer L, Wold B. 2008. Mapping and quantifying mammalian transcriptomes by RNA-Seq. Nat Methods 5:621-628.
-
(2008)
Nat Methods
, vol.5
, pp. 621-628
-
-
Mortazavi, A.1
Williams, B.A.2
McCue, K.3
Schaeffer, L.4
Wold, B.5
-
11
-
-
84857990816
-
A comparative analysis of exome capture
-
Parla JS, Iossifov I, Grabill I, Spector MS, Kramer M, McCombie WR. 2011. A comparative analysis of exome capture. Genome Biol 12:R97.
-
(2011)
Genome Biol
, vol.12
-
-
Parla, J.S.1
Iossifov, I.2
Grabill, I.3
Spector, M.S.4
Kramer, M.5
McCombie, W.R.6
-
12
-
-
80052830541
-
Comparison of solution-based exome capture methods for next-generation sequencing
-
Solunen AM, Ellonen P, Almusa H, Lepistö M, Eldfors S, Hannula S, Miettinen T, Tyynismaa H, Salo P, Heckman C, Joensuu H, Raivio T, Suomalainen A, Saarela J. 2011. Comparison of solution-based exome capture methods for next-generation sequencing. Genome Biol 12:R94.
-
(2011)
Genome Biol
, vol.12
-
-
Solunen, A.M.1
Ellonen, P.2
Almusa, H.3
Lepistö, M.4
Eldfors, S.5
Hannula, S.6
Miettinen, T.7
Tyynismaa, H.8
Salo, P.9
Heckman, C.10
Joensuu, H.11
Raivio, T.12
Suomalainen, A.13
Saarela, J.14
-
13
-
-
70449339945
-
Microdroplet-based PCR enrichment for large-scale targeted sequencing
-
Tewhey R, Warner JB, Nakano M, Libby B, Medkova M, David PH, Kotsopoulos SK, Samuel ML, Hutchison JB, Larson JW, Topol EJ, Weiner MP, Harismendy O, Olson J, Link DR, Frazer KA. 2009. Microdroplet-based PCR enrichment for large-scale targeted sequencing. Nat Biotechnol 27:1025-1031.
-
(2009)
Nat Biotechnol
, vol.27
, pp. 1025-1031
-
-
Tewhey, R.1
Warner, J.B.2
Nakano, M.3
Libby, B.4
Medkova, M.5
David, P.H.6
Kotsopoulos, S.K.7
Samuel, M.L.8
Hutchison, J.B.9
Larson, J.W.10
Topol, E.J.11
Weiner, M.P.12
Harismendy, O.13
Olson, J.14
Link, D.R.15
Frazer, K.A.16
|