Works matching IS 14747596 AND DT 2011 AND VI 12 AND IP 9

Results: 21

Next-generation human genetics.

Published in:

Genome Biology, 2011, v. 12, n. 9, p. 408, doi. 10.1186/gb-2011-12-9-408

By:

Shendure, Jay

Publication type:

Article

The exome factor.

Published in:

Genome Biology, 2011, v. 12, n. 9, p. 407, doi. 10.1186/gb-2011-12-9-407

By:

Stower, Hannah

Publication type:

Article

Unlocking Mendelian disease using exome sequencing.

Published in:

Genome Biology, 2011, v. 12, n. 9, p. 228, doi. 10.1186/gb-2011-12-9-228

By:

Gilissen, Christian;
Hoischen, Alexander;
Brunner, Han G.;
Veltman, Joris A.

Publication type:

Article

Computational and statistical approaches to analyzing variants identified by exome sequencing.

Published in:

Genome Biology, 2011, v. 12, n. 9, p. 227, doi. 10.1186/gb-2011-12-9-227

By:

Stitziel, Nathan O.;
Kiezun, Adam;
Sunyaev, Shamil

Publication type:

Article

The one new journal we might actually need.

Published in:

Genome Biology, 2011, v. 12, n. 9, p. 129, doi. 10.1186/gb-2011-12-9-129

By:

Petsko, Gregory A.

Publication type:

Article

Exome sequencing: the expert view.

Published in:

Genome Biology, 2011, v. 12, n. 9, p. 128, doi. 10.1186/gb-2011-12-9-128

By:

Biesecker, Leslie G.;
Shianna, Kevin V.;
Mullikin, Jim C.

Publication type:

Article

The promise and limitations of population exomics for human evolution studies.

Published in:

Genome Biology, 2011, v. 12, n. 9, p. 127, doi. 10.1186/gb-2011-12-9-127

By:

Tennessen, Jacob A.;
O'Connor, Timothy D.;
Bamshad, Michael J.;
Akey, Joshua M.

Publication type:

Article

A comparative analysis of exome capture.

Published in:

Genome Biology, 2011, v. 12, n. 9, p. 1, doi. 10.1186/gb-2011-12-9-r97

By:

Parla, Jennifer S.;
Iossifov, Ivan;
Grabill, Ian;
Spector, Mona S.;
Kramer, Melissa;
Richard McCombie, W.

Publication type:

Article

First somatic mutation of E2F1 in a critical DNA binding residue discovered in well-differentiated papillary mesothelioma of the peritoneum.

Published in:

Genome Biology, 2011, v. 12, n. 9, p. 1, doi. 10.1186/gb-2011-12-9-r96

By:

Yu, Willie;
Chan-On, Waraporn;
Teo, Melissa;
Ong, Choon Kiat;
Cutcutache, Ioana;
Allen, George E.;
Wong, Bernice;
Myint, Swe Swe;
Lim, Kiat Hon;
Mathijs Voorhoeve, P.;
Rozen, Steve;
Soo, Khee Chee;
Tan, Patrick;
Teh, Bin Tean

Publication type:

Article

Comprehensive comparison of three commercial human whole-exome capture platforms.

Published in:

Genome Biology, 2011, v. 12, n. 9, p. 1, doi. 10.1186/gb-2011-12-9-r95

By:

Asan;
Yu Xu;
Hui Jiang;
Tyler-Smith, Chris;
Yali Xue;
Tao Jiang;
Jiawei Wang;
Mingzhi Wu;
Xiao Liu;
Geng Tian;
Jun Wang;
Jian Wang;
Huangming Yang;
Xiuqing Zhang

Publication type:

Article

Comparison of solution-based exome capture methods for next generation sequencing.

Published in:

Genome Biology, 2011, v. 12, n. 9, p. 1, doi. 10.1186/gb-2011-12-9-r94

By:

Sulonen, Anna-Maija;
Ellonen, Pekka;
Almusa, Henrikki;
Lepistö, Maija;
Eldfors, Samuli;
Hannula, Sari;
Miettinen, Timo;
Tyynismaa, Henna;
Salo, Perttu;
Heckman, Caroline;
Joensuu, Heikki;
Raivio, Taneli;
Suomalainen, Anu;
Saarela, Janna

Publication type:

Article

Effective detection of rare variants in pooled DNA samples using Cross-pool tailcurve analysis.

Published in:

Genome Biology, 2011, v. 12, n. 9, p. 1, doi. 10.1186/gb-2011-12-9-r93

By:

Niranjan, Tejasvi S.;
Adamczyk, Abby;
Bravo, Héctor Corrada;
Taub, Margaret A.;
Wheelan, Sarah J .;
Irizarry, Rafael;
Wang, Tao

Publication type:

Article

Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia.

Published in:

Genome Biology, 2011, v. 12, n. 9, p. 1, doi. 10.1186/gb-2011-12-9-r92

By:

Takata, Atsushi;
Kato, Maiko;
Nakamura, Masayuki;
Yoshikawa, Takeo;
Kanba, Shigenobu;
Sano, Akira;
Kato, Tadafumi

Publication type:

Article

SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing.

Published in:

Genome Biology, 2011, v. 12, n. 9, p. 1, doi. 10.1186/gb-2011-12-9-r91

By:

Tariq, Muhammad;
Belmont, John W.;
Lalani, Seema;
Smolarek, Teresa;
Ware, Stephanie M.

Publication type:

Article

Exome sequencing identifies a missense mutation in Isl1 associated with low penetrance otitis media in dearisch mice.

Published in:

Genome Biology, 2011, v. 12, n. 9, p. 1, doi. 10.1186/gb-2011-12-9-r90

By:

Hilton, Jennifer M.;
Lewis, Morag A.;
Grati, M'hamed;
Ingham, Neil;
Pearson, Selina;
Laskowski, Roman A.;
Adams, David J.;
Steel, Karen P.

Publication type:

Article

Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern families.

Published in:

Genome Biology, 2011, v. 12, n. 9, p. 2, doi. 10.1186/gb-2011-12-9-r89

By:

Brownstein, Zippora;
Friedman, Lilach M.;
Shahin, Hashem;
Oron-Karni, Varda;
Kol, Nitzan;
Rayyan, Amal Abu;
Parzefall, Thomas;
Lev, Dorit;
Shalev, Stavit;
Frydman, Moshe;
Davidov, Bella;
Shohat, Mordechai;
Rahile, Michele;
Lieberman, Sari;
Levy-Lahad, Ephrat;
Lee, Ming K.;
Shomron, Noam;
King, Mary-Claire;
Walsh, Tom;
Kanaan, Moien

Publication type:

Article

Targeted analysis of nucleotide and copy number variation by exon capture in allotetraploid wheat genome.

Published in:

Genome Biology, 2011, v. 12, n. 9, p. 1, doi. 10.1186/gb-2011-12-9-r88

By:

Saintenac, Cyrille;
Jiang, Dayou;
Akhunov, Eduard D.

Publication type:

Article

Expanding whole exome resequencing into non-human primates.

Published in:

Genome Biology, 2011, v. 12, n. 9, p. 1, doi. 10.1186/gb-2011-12-9-r87

By:

Vallender, Eric J.

Publication type:

Article

Mutation discovery in mice by whole exome sequencing.

Published in:

Genome Biology, 2011, v. 12, n. 9, p. 1, doi. 10.1186/gb-2011-12-9-r86

By:

Fairfield, Heather;
Gilbert, Griffith J.;
Barter, Mary;
Corrigan, Rebecca R.;
Curtain, Michelle;
Ding, Yueming;
D'Ascenzo, Mark;
Gerhardt, Daniel J.;
He, Chao;
Huang, Wenhui;
Richmond, Todd;
Rowe, Lucy;
Probst, Frank J.;
Bergstrom, David E.;
Murray, Stephen A.;
Bult, Carol;
Richardson, Joel;
Kile, Benjamin T.;
Gut, Ivo;
Hager, Jorg

Publication type:

Article

Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes.

Published in:

Genome Biology, 2011, v. 12, n. 9, p. 1, doi. 10.1186/gb-2011-12-9-r85

By:

Smith, Katherine R.;
Bromhead, Catherine J.;
Hildebrand, Michael S.;
Eliot Shearer, A .;
Lockhart, Paul J.;
Najmabadi, Hossein;
Leventer, Richard J.;
McGillivray, George;
Amor, David J.;
Smith, Richard J.;
Bahlo, Melanie

Publication type:

Article

The functional spectrum of low-frequency coding variation.

Published in:

Genome Biology, 2011, v. 12, n. 9, p. 1, doi. 10.1186/gb-2011-12-9-r84

By:

Marth, Gabor T.;
Fuli Yu;
Indap, Amit R.;
Garimella, Kiran;
Gravel, Simon;
Leong, Wen Fung;
Tyler-Smith, Chris;
Bainbridge, Matthew;
Blackwell, Tom;
Zheng-Bradley, Xiangqun;
Chen, Yuan;
Challis, Danny;
Clarke, Laura;
Ball, Edward V.;
Cibulskis, Kristian;
Cooper, David N.;
Fulton, Bob;
Hartl, Chris;
Koboldt, Dan;
Muzny, Donna

Publication type:

Article