Article
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.
Nature genetics - 1 Jul 2015
Taylor Jenny C, 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 D, 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 David, 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 Ian, Trebes Amy, Twigg Stephen Rf, 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 Om, Bentley David, Donnelly Peter, McVean Gilean
Abstract excerpt
To assess factors influencing the success of whole-genome sequencing for mainstream clinical diagnosis, we sequenced 217 individuals from 156 independent cases or families across a broad spectrum of disorders in whom previous screening had identified no pathogenic variants. We quantified the numb...
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