Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

Jayne Y Hehir-Kwa, Mireille Claustres, Ros J Hastings, Conny van Ravenswaaij-Arts, Gabrielle Christenhusz, Maurizio Genuardi, Béla Melegh, Anne Cambon-Thomsen, Philippos Patsalis, Joris Vermeesch, Martina C Cornel, Beverly Searle, Aarno Palotie, Ettore Capoluongo, Borut Peterlin, Xavier Estivill, Peter N Robinson, Towards a European consensus for reporting incidental findings during clinical NGS testing European Journal of Human Genetics. ,vol. 23, pp. 1601- 1606 ,(2015) , 10.1038/EJHG.2015.111

Jenny C Taylor, Hilary C Martin, Stefano Lise, John Broxholme, Jean-Baptiste Cazier, Andy Rimmer, Alexander Kanapin, Gerton Lunter, Simon Fiddy, Chris Allan, A Radu Aricescu, Moustafa Attar, Christian Babbs, Jennifer Becq, David Beeson, Celeste Bento, Patricia Bignell, Edward Blair, Veronica J Buckle, Katherine Bull, Ondrej Cais, Holger Cario, Helen Chapel, Richard R Copley, Richard Cornall, Jude Craft, Karin Dahan, Emma E Davenport, Calliope Dendrou, Olivier Devuyst, Aimée L Fenwick, Jonathan Flint, Lars Fugger, Rodney D Gilbert, Anne Goriely, Angie Green, Ingo H Greger, Russell Grocock, Anja V Gruszczyk, Robert Hastings, Edouard Hatton, Doug Higgs, Adrian Hill, Chris Holmes, Malcolm Howard, Linda Hughes, Peter Humburg, David Johnson, Fredrik Karpe, Zoya Kingsbury, Usha Kini, Julian C Knight, Jonathan Krohn, Sarah Lamble, Craig Langman, Lorne Lonie, Joshua Luck, Davis McCarthy, Simon J McGowan, Mary Frances McMullin, Kerry A Miller, Lisa Murray, Andrea H Németh, M Andrew Nesbit, David Nutt, Elizabeth Ormondroyd, Annette Bang Oturai, Alistair Pagnamenta, Smita Y Patel, Melanie Percy, Nayia Petousi, Paolo Piazza, Sian E Piret, Guadalupe Polanco-Echeverry, Niko Popitsch, Fiona Powrie, Chris Pugh, Lynn Quek, Peter A Robbins, Kathryn Robson, Alexandra Russo, Natasha Sahgal, Pauline A Van Schouwenburg, Anna Schuh, Earl Silverman, Alison Simmons, Per Soelberg Sørensen, Elizabeth Sweeney, John Taylor, Rajesh V Thakker, Ian Tomlinson, Amy Trebes, Stephen RF Twigg, Holm H Uhlig, Paresh Vyas, Tim Vyse, Steven A Wall, Hugh Watkins, Michael P Whyte, Lorna Witty, Ben Wright, Chris Yau, David Buck, Sean Humphray, Peter J Ratcliffe, John I Bell, Andrew OM Wilkie, David Bentley, Peter Donnelly, Gilean McVean, None, Factors influencing success of clinical genome sequencing across a broad spectrum of disorders Nature Genetics. ,vol. 47, pp. 717- 726 ,(2015) , 10.1038/NG.3304

Laurel K Willig, Josh E Petrikin, Laurie D Smith, Carol J Saunders, Isabelle Thiffault, Neil A Miller, Sarah E Soden, Julie A Cakici, Suzanne M Herd, Greyson Twist, Aaron Noll, Mitchell Creed, Patria M Alba, Shannon L Carpenter, Mark A Clements, Ryan T Fischer, J Allyson Hays, Howard Kilbride, Ryan J McDonough, Jamie L Rosterman, Sarah L Tsai, Lee Zellmer, Emily G Farrow, Stephen F Kingsmore, Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings The Lancet Respiratory Medicine. ,vol. 3, pp. 377- 387 ,(2015) , 10.1016/S2213-2600(15)00139-3

Michael N Weedon, , Inês Cebola, Ann-Marie Patch, Sarah E Flanagan, Elisa De Franco, Richard Caswell, Santiago A Rodríguez-Seguí, Charles Shaw-Smith, Candy H-H Cho, Hana Lango Allen, Jayne A L Houghton, Christian L Roth, Rongrong Chen, Khalid Hussain, Phil Marsh, Ludovic Vallier, Anna Murray, Sian Ellard, Jorge Ferrer, Andrew T Hattersley, Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis Nature Genetics. ,vol. 46, pp. 61- 64 ,(2014) , 10.1038/NG.2826

R. Drmanac, A. B. Sparks, M. J. Callow, A. L. Halpern, N. L. Burns, B. G. Kermani, P. Carnevali, I. Nazarenko, G. B. Nilsen, G. Yeung, F. Dahl, A. Fernandez, B. Staker, K. P. Pant, J. Baccash, A. P. Borcherding, A. Brownley, R. Cedeno, L. Chen, D. Chernikoff, A. Cheung, R. Chirita, B. Curson, J. C. Ebert, C. R. Hacker, R. Hartlage, B. Hauser, S. Huang, Y. Jiang, V. Karpinchyk, M. Koenig, C. Kong, T. Landers, C. Le, J. Liu, C. E. McBride, M. Morenzoni, R. E. Morey, K. Mutch, H. Perazich, K. Perry, B. A. Peters, J. Peterson, C. L. Pethiyagoda, K. Pothuraju, C. Richter, A. M. Rosenbaum, S. Roy, J. Shafto, U. Sharanhovich, K. W. Shannon, C. G. Sheppy, M. Sun, J. V. Thakuria, A. Tran, D. Vu, A. W. Zaranek, X. Wu, S. Drmanac, A. R. Oliphant, W. C. Banyai, B. Martin, D. G. Ballinger, G. M. Church, C. A. Reid, Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays Science. ,vol. 327, pp. 78- 81 ,(2010) , 10.1126/SCIENCE.1181498

Charles Lee, Stephen W Scherer, None, The clinical context of copy number variation in the human genome Expert Reviews in Molecular Medicine. ,vol. 12, ,(2010) , 10.1017/S1462399410001390

B.-I. Bae, I. Tietjen, K. D. Atabay, G. D. Evrony, M. B. Johnson, E. Asare, P. P. Wang, A. Y. Murayama, K. Im, S. N. Lisgo, L. Overman, N. Sestan, B. S. Chang, A. J. Barkovich, P. E. Grant, M. Topcu, J. Politsky, H. Okano, X. Piao, C. A. Walsh, Evolutionarily Dynamic Alternative Splicing of GPR56 Regulates Regional Cerebral Cortical Patterning Science. ,vol. 343, pp. 764- 768 ,(2014) , 10.1126/SCIENCE.1244392

Sarah E Ali-Khan, Abdallah S Daar, Cheryl Shuman, Peter N Ray, Stephen W Scherer, None, Whole genome scanning: resolving clinical diagnosis and management amidst complex data. Pediatric Research. ,vol. 66, pp. 357- 363 ,(2009) , 10.1203/PDR.0B013E3181B0CBD8

K. Wang, M. Li, H. Hakonarson, ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data Nucleic Acids Research. ,vol. 38, ,(2010) , 10.1093/NAR/GKQ603

Michael J. Bamshad, Joshua M. Akey, , , , Jacob A. Tennessen, Abigail W. Bigham, Timothy D. O’Connor, Wenqing Fu, Eimear E. Kenny, Simon Gravel, Sean McGee, Ron Do, Xiaoming Liu, Goo Jun, Hyun Min Kang, Daniel Jordan, Suzanne M. Leal, Stacey Gabriel, Mark J. Rieder, Goncalo Abecasis, David Altshuler, Deborah A. Nickerson, Eric Boerwinkle, Shamil Sunyaev, Carlos D. Bustamante, Evolution and functional impact of rare coding variation from deep sequencing of human exomes Science. ,vol. 337, pp. 64- 69 ,(2012) , 10.1126/SCIENCE.1219240