Factors influencing success of clinical genome sequencing across a broad spectrum of disorders
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Published:2015-05-18
Issue:7
Volume:47
Page:717-726
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ISSN:1061-4036
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Container-title:Nature Genetics
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language:en
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Short-container-title:Nat Genet
Author:
Taylor Jenny CORCID, Martin Hilary C, Lise Stefano, Broxholme John, Cazier Jean-Baptiste, Rimmer Andy, Kanapin Alexander, Lunter Gerton, Fiddy Simon, Allan Chris, Aricescu A Radu, Attar Moustafa, Babbs Christian, Becq Jennifer, Beeson David, Bento Celeste, Bignell Patricia, Blair Edward, Buckle Veronica J, Bull Katherine, Cais Ondrej, Cario Holger, Chapel Helen, Copley Richard R, Cornall Richard, Craft Jude, Dahan Karin, Davenport Emma E, Dendrou Calliope, Devuyst Olivier, Fenwick Aimée L, Flint Jonathan, Fugger Lars, Gilbert Rodney DORCID, Goriely Anne, Green Angie, Greger Ingo H, Grocock Russell, Gruszczyk Anja V, Hastings Robert, Hatton Edouard, Higgs Doug, Hill Adrian, Holmes Chris, Howard Malcolm, Hughes Linda, Humburg Peter, Johnson David, Karpe Fredrik, Kingsbury Zoya, Kini Usha, Knight Julian C, Krohn Jonathan, Lamble Sarah, Langman Craig, Lonie Lorne, Luck Joshua, McCarthy Davis, McGowan Simon J, McMullin Mary Frances, Miller Kerry A, Murray Lisa, Németh Andrea H, Nesbit M Andrew, Nutt DavidORCID, Ormondroyd Elizabeth, Oturai Annette Bang, Pagnamenta Alistair, Patel Smita Y, Percy Melanie, Petousi Nayia, Piazza Paolo, Piret Sian E, Polanco-Echeverry Guadalupe, Popitsch Niko, Powrie Fiona, Pugh Chris, Quek Lynn, Robbins Peter A, Robson Kathryn, Russo Alexandra, Sahgal Natasha, van Schouwenburg Pauline A, Schuh Anna, Silverman Earl, Simmons Alison, Sørensen Per Soelberg, Sweeney Elizabeth, Taylor John, Thakker Rajesh V, Tomlinson IanORCID, Trebes Amy, Twigg Stephen R F, Uhlig Holm H, Vyas Paresh, Vyse Tim, Wall Steven A, Watkins Hugh, Whyte Michael P, Witty Lorna, Wright Ben, Yau Chris, Buck David, Humphray Sean, Ratcliffe Peter J, Bell John I, Wilkie Andrew O M, Bentley David, Donnelly Peter, McVean Gilean
Publisher
Springer Science and Business Media LLC
Reference73 articles.
1. Need, A.C. et al. Clinical application of exome sequencing in undiagnosed genetic conditions. J. Med. Genet. 49, 353–361 (2012). 2. Bamshad, M.J. et al. Exome sequencing as a tool for Mendelian disease gene discovery. Nat. Rev. Genet. 12, 745–755 (2011). 3. Yang, Y. et al. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N. Engl. J. Med. 369, 1502–1511 (2013). 4. Gonzaga-Jauregui, C., Lupski, J.R. & Gibbs, R.A. Human genome sequencing in health and disease. Annu. Rev. Med. 63, 35–61 (2012). 5. Dixon-Salazar, T.J. et al. Exome sequencing can improve diagnosis and alter patient management. Sci. Transl. Med. 4, 138ra78 (2012).
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