-
1
-
-
79959725029
-
1000 Genomes Project, Variation in genome-wide mutation rates within and between human families
-
Conrad D.F., Keebler J.E.M., DePristo M.A., Lindsay S.J., Zhang Y., Casals F., Idaghdour Y., Hartl C.L., Torroja C., Garimella K.V., Zilversmit M., Cartwright R., Rouleau G.A., Daly M., Stone E.A., Hurles M.E., Awadalla P. 1000 Genomes Project, Variation in genome-wide mutation rates within and between human families. Nat. Genet. 2011, 43:712-714.
-
(2011)
Nat. Genet.
, vol.43
, pp. 712-714
-
-
Conrad, D.F.1
Keebler, J.E.M.2
DePristo, M.A.3
Lindsay, S.J.4
Zhang, Y.5
Casals, F.6
Idaghdour, Y.7
Hartl, C.L.8
Torroja, C.9
Garimella, K.V.10
Zilversmit, M.11
Cartwright, R.12
Rouleau, G.A.13
Daly, M.14
Stone, E.A.15
Hurles, M.E.16
Awadalla, P.17
-
2
-
-
77956392692
-
Direct measure of the de novo mutation rate in autism and schizophrenia cohorts
-
Awadalla P., Gauthier J., Myers R.A., Casals F., Hamdan F.F., Griffing A.R., Côté M., Henrion E., Spiegelman D., Tarabeux J., Piton A., Yang Y., Boyko A., Bustamante C., Xiong L., Rapoport J.L., Addington A.M., DeLisi J.L.E., Krebs M.-O., Joober R., Millet B., Fombonne E., Mottron L., Zilversmit M., Keebler J., Daoud H., Marineau C., Roy-Gagnon M.-H., Dubé M.-P., Eyre-Walker A., Drapeau P., Stone E.A., Lafrenière R.G., Rouleau G.A. Direct measure of the de novo mutation rate in autism and schizophrenia cohorts. Am. J. Hum. Genet. 2010, 87:316-324.
-
(2010)
Am. J. Hum. Genet.
, vol.87
, pp. 316-324
-
-
Awadalla, P.1
Gauthier, J.2
Myers, R.A.3
Casals, F.4
Hamdan, F.F.5
Griffing, A.R.6
Côté, M.7
Henrion, E.8
Spiegelman, D.9
Tarabeux, J.10
Piton, A.11
Yang, Y.12
Boyko, A.13
Bustamante, C.14
Xiong, L.15
Rapoport, J.L.16
Addington, A.M.17
DeLisi, J.L.E.18
Krebs, M.-O.19
Joober, R.20
Millet, B.21
Fombonne, E.22
Mottron, L.23
Zilversmit, M.24
Keebler, J.25
Daoud, H.26
Marineau, C.27
Roy-Gagnon, M.-H.28
Dubé, M.-P.29
Eyre-Walker, A.30
Drapeau, P.31
Stone, E.A.32
Lafrenière, R.G.33
Rouleau, G.A.34
more..
-
3
-
-
77952374703
-
De novo mutations in the gene encoding the synaptic scaffolding protein shank3 in patients ascertained for schizophrenia
-
S2D Team
-
Gauthier J., Champagne N., Lafrenière R.G., Xiong L., Spiegelman D., Brustein E., Lapointe M., Peng H., Côté M., Noreau A., Hamdan F.F., Addington A.M., Rapoport J.L., Delisi L.E., Krebs M.-O., Joober R., Fathalli F., Mouaffak F., Haghighi A.P., Néri C., Dubé M.-P., Samuels M.E., Marineau C., Stone E.A., Awadalla P., Barker P.A., Carbonetto S., Drapeau P., Rouleau G.A. De novo mutations in the gene encoding the synaptic scaffolding protein shank3 in patients ascertained for schizophrenia. Proc. Natl. Acad. Sci. U. S. A. 2010, 107:7863-7868. S2D Team.
-
(2010)
Proc. Natl. Acad. Sci. U. S. A.
, vol.107
, pp. 7863-7868
-
-
Gauthier, J.1
Champagne, N.2
Lafrenière, R.G.3
Xiong, L.4
Spiegelman, D.5
Brustein, E.6
Lapointe, M.7
Peng, H.8
Côté, M.9
Noreau, A.10
Hamdan, F.F.11
Addington, A.M.12
Rapoport, J.L.13
Delisi, L.E.14
Krebs, M.-O.15
Joober, R.16
Fathalli, F.17
Mouaffak, F.18
Haghighi, A.P.19
Néri, C.20
Dubé, M.-P.21
Samuels, M.E.22
Marineau, C.23
Stone, E.A.24
Awadalla, P.25
Barker, P.A.26
Carbonetto, S.27
Drapeau, P.28
Rouleau, G.A.29
more..
-
4
-
-
84860780495
-
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
-
Sanders S., Murtha M., Gupta A., Murdoch J., Raubeson M., Willsey A., Ercan-Sencicek A., DiLullo N., Parikshak N., Stein J., et al. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 2012, 485:82-93.
-
(2012)
Nature
, vol.485
, pp. 82-93
-
-
Sanders, S.1
Murtha, M.2
Gupta, A.3
Murdoch, J.4
Raubeson, M.5
Willsey, A.6
Ercan-Sencicek, A.7
DiLullo, N.8
Parikshak, N.9
Stein, J.10
-
5
-
-
84860712363
-
Patterns and rates of exonic de novo mutations in autism spectrum disorders
-
Neale B., Kou Y., Liu L., Ma'ayan A., Samocha K., Sabo A., Lin C., Stevens C., Wang L., Makarov V., et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature 2012, 485:242-245.
-
(2012)
Nature
, vol.485
, pp. 242-245
-
-
Neale, B.1
Kou, Y.2
Liu, L.3
Ma'ayan, A.4
Samocha, K.5
Sabo, A.6
Lin, C.7
Stevens, C.8
Wang, L.9
Makarov, V.10
-
6
-
-
84860741138
-
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
-
O'Roak B., Vives L., Girirajan S., Karakoc E., Krumm N., Coe B., Levy R., Ko A., Lee C., Smith J., et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 2012, 485:246-250.
-
(2012)
Nature
, vol.485
, pp. 246-250
-
-
O'Roak, B.1
Vives, L.2
Girirajan, S.3
Karakoc, E.4
Krumm, N.5
Coe, B.6
Levy, R.7
Ko, A.8
Lee, C.9
Smith, J.10
-
7
-
-
46449111382
-
Genetic-linkage mapping of complex hereditary disorders to a whole-genome molecular-interaction network
-
Iossifov I., Zheng T., Baron M., Gilliam T.C., Rzhetsky A. Genetic-linkage mapping of complex hereditary disorders to a whole-genome molecular-interaction network. Genome Res. 2008, 18:1150-1162.
-
(2008)
Genome Res.
, vol.18
, pp. 1150-1162
-
-
Iossifov, I.1
Zheng, T.2
Baron, M.3
Gilliam, T.C.4
Rzhetsky, A.5
-
8
-
-
70149113719
-
Fidelity of SNP array genotyping using Epstein Barr virus-transformed B-lymphocyte cell lines: implications for genome-wide association studies
-
Herbeck J.T., Gottlieb G.S., Wong K., Detels R., Phair J.P., Rinaldo C.R., Jacobson L.P., Margolick J.B., Mullins J.I. Fidelity of SNP array genotyping using Epstein Barr virus-transformed B-lymphocyte cell lines: implications for genome-wide association studies. PLoS One 2009, 4:e6915.
-
(2009)
PLoS One
, vol.4
-
-
Herbeck, J.T.1
Gottlieb, G.S.2
Wong, K.3
Detels, R.4
Phair, J.P.5
Rinaldo, C.R.6
Jacobson, L.P.7
Margolick, J.B.8
Mullins, J.I.9
-
9
-
-
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., González J.R., Gratacòs 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., Zhang J., 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
González, J.R.14
Gratacòs, 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
Zhang, J.33
Armengol, L.34
Conrad, D.F.35
Estivill, X.36
Tyler-Smith, C.37
Carter, N.P.38
Aburatani, H.39
Lee, C.40
Jones, K.W.41
Scherer, S.W.42
Hurles, M.E.43
more..
-
10
-
-
33847180205
-
Copy number increase of 1p36.33 and mitochondrial genome amplification in Epstein-Barr virus-transformed lymphoblastoid cell lines
-
Jeon J.-P., Shim S.-M., Nam H.-Y., Baik S.-Y., Kim J.-W., Han B.-G. Copy number increase of 1p36.33 and mitochondrial genome amplification in Epstein-Barr virus-transformed lymphoblastoid cell lines. Cancer Genet. Cytogenet. 2007, 173:122-130.
-
(2007)
Cancer Genet. Cytogenet.
, vol.173
, pp. 122-130
-
-
Jeon, J.-P.1
Shim, S.-M.2
Nam, H.-Y.3
Baik, S.-Y.4
Kim, J.-W.5
Han, B.-G.6
-
11
-
-
33846531959
-
Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals
-
Simon-Sanchez J., Scholz S., Fung H.-C., Matarin M., Hernandez D., Gibbs J.R., Britton A., de Vrieze F.W., Peckham E., Gwinn-Hardy K., Crawley A., Keen J.C., Nash J., Borgaonkar D., Hardy J., Singleton A. Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals. Hum. Mol. Genet. 2007, 16:1-14.
-
(2007)
Hum. Mol. Genet.
, vol.16
, pp. 1-14
-
-
Simon-Sanchez, J.1
Scholz, S.2
Fung, H.-C.3
Matarin, M.4
Hernandez, D.5
Gibbs, J.R.6
Britton, A.7
de Vrieze, F.W.8
Peckham, E.9
Gwinn-Hardy, K.10
Crawley, A.11
Keen, J.C.12
Nash, J.13
Borgaonkar, D.14
Hardy, J.15
Singleton, A.16
-
12
-
-
65449151949
-
Copy number variation in African Americans
-
McElroy J.P., Nelson M.R., Caillier S.J., Oksenberg J.R. Copy number variation in African Americans. BMC Genet. 2009, 10:15.
-
(2009)
BMC Genet.
, vol.10
, pp. 15
-
-
McElroy, J.P.1
Nelson, M.R.2
Caillier, S.J.3
Oksenberg, J.R.4
-
13
-
-
79955483667
-
A framework for variation discovery and genotyping using next-generation DNA sequencing data
-
Depristo M.A., Banks E., Poplin R., Garimella K.V., Maguire J.R., Hartl C., Philippakis A.A., Del Angel G., Rivas M.A., Hanna M., McKenna A., Fennell T.J., Kernytsky A.M., Sivachenko A.Y., Cibulskis K., Gabriel S.B., Altshuler D., Daly M.J. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat. Genet. 2011, 43:491-498.
-
(2011)
Nat. Genet.
, vol.43
, pp. 491-498
-
-
Depristo, M.A.1
Banks, E.2
Poplin, R.3
Garimella, K.V.4
Maguire, J.R.5
Hartl, C.6
Philippakis, A.A.7
Del Angel, G.8
Rivas, M.A.9
Hanna, M.10
McKenna, A.11
Fennell, T.J.12
Kernytsky, A.M.13
Sivachenko, A.Y.14
Cibulskis, K.15
Gabriel, S.B.16
Altshuler, D.17
Daly, M.J.18
-
14
-
-
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
-
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 M.A. 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
|