-
1
-
-
0345304399
-
The power and promise of population genomics: from genotyping to genome typing
-
Luikart G, England PR, Tallmon D, Jordan S, Taberlet P. The power and promise of population genomics: from genotyping to genome typing. Nat Rev Genet 2003, 4:981-994.
-
(2003)
Nat Rev Genet
, vol.4
, pp. 981-994
-
-
Luikart, G.1
England, P.R.2
Tallmon, D.3
Jordan, S.4
Taberlet, P.5
-
2
-
-
84872696957
-
Using whole-exome sequencing to identify inherited causes of autism
-
Yu TW, Chahrour MH, Coulter ME, Jiralerspong S, Okamura-Ikeda K, Ataman B, Schmitz-Abe K, Harmin DA, Adli M, Malik AN, Dgama AM, Lim ET, Sanders SJ, Mochida GH, Partlow JN, Sunu CM, Felie JM, Rodriguez J, Nasir RH, Ware J, Joseph RM, Hill RS, Kwan BY, Al-Saffar M, Mukaddes NM, Hashmi A, Balkhy S, Gascon GG, Hisama FM, LeClair E, et al. Using whole-exome sequencing to identify inherited causes of autism. Neuron 2013, 77:259-273.
-
(2013)
Neuron
, vol.77
, pp. 259-273
-
-
Yu, T.W.1
Chahrour, M.H.2
Coulter, M.E.3
Jiralerspong, S.4
Okamura-Ikeda, K.5
Ataman, B.6
Schmitz-Abe, K.7
Harmin, D.A.8
Adli, M.9
Malik, A.N.10
Dgama, A.M.11
Lim, E.T.12
Sanders, S.J.13
Mochida, G.H.14
Partlow, J.N.15
Sunu, C.M.16
Felie, J.M.17
Rodriguez, J.18
Nasir, R.H.19
Ware, J.20
Joseph, R.M.21
Hill, R.S.22
Kwan, B.Y.23
Al-Saffar, M.24
Mukaddes, N.M.25
Hashmi, A.26
Balkhy, S.27
Gascon, G.G.28
Hisama, F.M.29
LeClair, E.30
more..
-
3
-
-
84871618131
-
Whole exome sequencing reveals uncommon mutations in the recently identified Fanconi anemia gene SLX4/FANCP
-
Schuster B, Knies K, Stoepker C, Velleuer E, Friedl R, Gottwald-Muhlhauser B, de Winter JP, Schindler D. Whole exome sequencing reveals uncommon mutations in the recently identified Fanconi anemia gene SLX4/FANCP. Hum Mutat 2013, 34:93-96.
-
(2013)
Hum Mutat
, vol.34
, pp. 93-96
-
-
Schuster, B.1
Knies, K.2
Stoepker, C.3
Velleuer, E.4
Friedl, R.5
Gottwald-Muhlhauser, B.6
de Winter, J.P.7
Schindler, D.8
-
4
-
-
84872131850
-
Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A
-
Kalsoom UE, Klopocki E, Wasif N, Tariq M, Khan S, Hecht J, Krawitz P, Mundlos S, Ahmad W. Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A. J Med Genet 2013, 50:47-53.
-
(2013)
J Med Genet
, vol.50
, pp. 47-53
-
-
Kalsoom, U.E.1
Klopocki, E.2
Wasif, N.3
Tariq, M.4
Khan, S.5
Hecht, J.6
Krawitz, P.7
Mundlos, S.8
Ahmad, W.9
-
5
-
-
84878541658
-
Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure
-
Izumi R, Niihori T, Aoki Y, Suzuki N, Kato M, Warita H, Takahashi T, Tateyama M, Nagashima T, Funayama R, Abe K, Nakayama K, Aoki M, Matsubara Y. Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure. J Hum Genet 2013, 58:259-266.
-
(2013)
J Hum Genet
, vol.58
, pp. 259-266
-
-
Izumi, R.1
Niihori, T.2
Aoki, Y.3
Suzuki, N.4
Kato, M.5
Warita, H.6
Takahashi, T.7
Tateyama, M.8
Nagashima, T.9
Funayama, R.10
Abe, K.11
Nakayama, K.12
Aoki, M.13
Matsubara, Y.14
-
6
-
-
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. 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
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
-
7
-
-
36549021060
-
Genome-wide in situ exon capture for selective resequencing
-
Hodges E, Xuan Z, Balija V, Kramer M, Molla MN, Smith SW, Middle CM, Rodesch MJ, Albert TJ, Hannon GJ, McCombie WR. Genome-wide in situ exon capture for selective resequencing. Nat Genet 2007, 39:1522-1527.
-
(2007)
Nat Genet
, vol.39
, pp. 1522-1527
-
-
Hodges, E.1
Xuan, Z.2
Balija, V.3
Kramer, M.4
Molla, M.N.5
Smith, S.W.6
Middle, C.M.7
Rodesch, M.J.8
Albert, T.J.9
Hannon, G.J.10
McCombie, W.R.11
-
8
-
-
77953565946
-
Whole exome capture in solution with 3 Gbp of data
-
Bainbridge MN, Wang M, Burgess DL, Kovar C, Rodesch MJ, D'Ascenzo M, Kitzman J, Wu YQ, Newsham I, Richmond TA, Jeddeloh JA, Muzny D, Albert TJ. Whole exome capture in solution with 3 Gbp 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
D'Ascenzo, M.6
Kitzman, J.7
Wu, Y.Q.8
Newsham, I.9
Richmond, T.A.10
Jeddeloh, J.A.11
Muzny, D.12
Albert, T.J.13
-
9
-
-
83055180102
-
Evaluation of a transposase protocol for rapid generation of shotgun high-throughput sequencing libraries from nanogram quantities of DNA
-
Marine R, Polson SW, Ravel J, Hatfull G, Russell D, Sullivan M, Syed F, Dumas M, Wommack KE. Evaluation of a transposase protocol for rapid generation of shotgun high-throughput sequencing libraries from nanogram quantities of DNA. Appl Environ Microbiol 2011, 77:8071-8079.
-
(2011)
Appl Environ Microbiol
, vol.77
, pp. 8071-8079
-
-
Marine, R.1
Polson, S.W.2
Ravel, J.3
Hatfull, G.4
Russell, D.5
Sullivan, M.6
Syed, F.7
Dumas, M.8
Wommack, K.E.9
-
10
-
-
80054757012
-
Performance comparison of exome DNA sequencing technologies
-
Clark MJ, Chen R, Lam HY, Karczewski KJ, Chen R, Euskirchen G, Butte AJ, Snyder M. Performance comparison of exome DNA sequencing technologies. Nat Biotechnol 2011, 29:908-914.
-
(2011)
Nat Biotechnol
, vol.29
, pp. 908-914
-
-
Clark, M.J.1
Chen, R.2
Lam, H.Y.3
Karczewski, K.J.4
Chen, R.5
Euskirchen, G.6
Butte, A.J.7
Snyder, M.8
-
11
-
-
80052830541
-
Comparison of solution-based exome capture methods for next generation sequencing
-
Sulonen AM, Ellonen P, Almusa H, Lepisto M, Eldfors S, Hannula S, Miettinen T, Tyynismaa H, Salo P, Heckman C, Joensuu H, Raivio T, Suomalainen A, Saarela J. Comparison of solution-based exome capture methods for next generation sequencing. Genome Biol 2011, 12:R94.
-
(2011)
Genome Biol
, vol.12
-
-
Sulonen, A.M.1
Ellonen, P.2
Almusa, H.3
Lepisto, 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
-
12
-
-
80053355174
-
Comprehensive comparison of three commercial human whole-exome capture platforms
-
Asan, Xu Y, Jiang H, Tyler-Smith C, Xue Y, Jiang T, Wang J, Wu M, Liu X, Tian G, Wang J, Wang J, Yang H, Zhang X. Comprehensive comparison of three commercial human whole-exome capture platforms. Genome Biol 2011, 12:R95.
-
(2011)
Genome Biol
, vol.12
-
-
Asan1
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
Wang, J.12
Yang, H.13
Zhang, X.14
-
13
-
-
84857990816
-
A comparative analysis of exome capture
-
Parla JS, Iossifov I, Grabill I, Spector MS, Kramer M, McCombie WR. A comparative analysis of exome capture. Genome Biol 2011, 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
-
14
-
-
33846057724
-
NCBI reference sequences (RefSeq): a curated non-redundant sequence database of genomes, transcripts and proteins
-
Pruitt KD, Tatusova T, Maglott DR. NCBI reference sequences (RefSeq): a curated non-redundant sequence database of genomes, transcripts and proteins. Nucleic Acids Res 2007, 35:D61-D65.
-
(2007)
Nucleic Acids Res
, vol.35
-
-
Pruitt, K.D.1
Tatusova, T.2
Maglott, D.R.3
-
15
-
-
84858221706
-
Ensembl 2012
-
Flicek P, Amode MR, Barrell D, Beal K, Brent S, Carvalho-Silva D, Clapham P, Coates G, Fairley S, Fitzgerald S, Gil L, Gordon L, Hendrix M, Hourlier T, Johnson N, Kähäri AK, Keefe D, Keenan S, Kinsella R, Komorowska M, Koscielny G, Kulesha E, Larsson P, Longden I, McLaren W, Muffato M, Overduin B, Pignatelli M, Pritchard B, Riat HS, et al. Ensembl 2012. Nucleic Acids Res 2012, 40:D84-D90.
-
(2012)
Nucleic Acids Res
, vol.40
-
-
Flicek, P.1
Amode, M.R.2
Barrell, D.3
Beal, K.4
Brent, S.5
Carvalho-Silva, D.6
Clapham, P.7
Coates, G.8
Fairley, S.9
Fitzgerald, S.10
Gil, L.11
Gordon, L.12
Hendrix, M.13
Hourlier, T.14
Johnson, N.15
Kähäri, A.K.16
Keefe, D.17
Keenan, S.18
Kinsella, R.19
Komorowska, M.20
Koscielny, G.21
Kulesha, E.22
Larsson, P.23
Longden, I.24
McLaren, W.25
Muffato, M.26
Overduin, B.27
Pignatelli, M.28
Pritchard, B.29
Riat, H.S.30
more..
-
16
-
-
67650064594
-
The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes
-
Pruitt KD, Harrow J, Harte RA, Wallin C, Diekhans M, Maglott DR, Searle S, Farrell CM, Loveland JE, Ruef BJ, Hart E, Suner MM, Landrum MJ, Aken B, Ayling S, Baertsch R, Fernandez-Banet J, Cherry JL, Curwen V, Dicuccio M, Kellis M, Lee J, Lin MF, Schuster M, Shkeda A, Amid C, Brown G, Dukhanina O, Frankish A, Hart J, et al. The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes. Genome Res 2009, 19:1316-1323.
-
(2009)
Genome Res
, vol.19
, pp. 1316-1323
-
-
Pruitt, K.D.1
Harrow, J.2
Harte, R.A.3
Wallin, C.4
Diekhans, M.5
Maglott, D.R.6
Searle, S.7
Farrell, C.M.8
Loveland, J.E.9
Ruef, B.J.10
Hart, E.11
Suner, M.M.12
Landrum, M.J.13
Aken, B.14
Ayling, S.15
Baertsch, R.16
Fernandez-Banet, J.17
Cherry, J.L.18
Curwen, V.19
Dicuccio, M.20
Kellis, M.21
Lee, J.22
Lin, M.F.23
Schuster, M.24
Shkeda, A.25
Amid, C.26
Brown, G.27
Dukhanina, O.28
Frankish, A.29
Hart, J.30
more..
-
17
-
-
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. 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
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
-
18
-
-
79951694175
-
Analyzing and minimizing PCR amplification bias in Illumina sequencing libraries
-
Aird D, Ross MG, Chen WS, Danielsson M, Fennell T, Russ C, Jaffe DB, Nusbaum C, Gnirke A. Analyzing and minimizing PCR amplification bias in Illumina sequencing libraries. Genome Biol 2011, 12:R18.
-
(2011)
Genome Biol
, vol.12
-
-
Aird, D.1
Ross, M.G.2
Chen, W.S.3
Danielsson, M.4
Fennell, T.5
Russ, C.6
Jaffe, D.B.7
Nusbaum, C.8
Gnirke, A.9
-
19
-
-
0034669668
-
Assessment of the sensitivity and specificity of oligonucleotide (50mer) microarrays
-
Kane MD, Jatkoe TA, Stumpf CR, Lu J, Thomas JD, Madore SJ. Assessment of the sensitivity and specificity of oligonucleotide (50mer) microarrays. Nucleic Acids Res 2000, 28:4552-4557.
-
(2000)
Nucleic Acids Res
, vol.28
, pp. 4552-4557
-
-
Kane, M.D.1
Jatkoe, T.A.2
Stumpf, C.R.3
Lu, J.4
Thomas, J.D.5
Madore, S.J.6
-
20
-
-
84860644929
-
Insertion site preference of Mu, Tn5, and Tn7 transposons
-
Green B, Bouchier C, Fairhead C, Craig NL, Cormack BP. Insertion site preference of Mu, Tn5, and Tn7 transposons. Mob DNA 2012, 3:3.
-
(2012)
Mob DNA
, vol.3
, pp. 3
-
-
Green, B.1
Bouchier, C.2
Fairhead, C.3
Craig, N.L.4
Cormack, B.P.5
-
21
-
-
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
-
22
-
-
0036094907
-
Genomewide comparison of DNA sequences between humans and chimpanzees
-
Ebersberger I, Metzler D, Schwarz C, Paabo S. Genomewide comparison of DNA sequences between humans and chimpanzees. Am J Hum Genet 2002, 70:1490-1497.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 1490-1497
-
-
Ebersberger, I.1
Metzler, D.2
Schwarz, C.3
Paabo, S.4
-
23
-
-
0142092542
-
Single nucleotide variation analysis in 65 candidate genes for CNS disorders in a representative sample of the European population
-
Freudenberg-Hua Y, Freudenberg J, Kluck N, Cichon S, Propping P, Nothen MM. Single nucleotide variation analysis in 65 candidate genes for CNS disorders in a representative sample of the European population. Genome Res 2003, 13:2271-2276.
-
(2003)
Genome Res
, vol.13
, pp. 2271-2276
-
-
Freudenberg-Hua, Y.1
Freudenberg, J.2
Kluck, N.3
Cichon, S.4
Propping, P.5
Nothen, M.M.6
|