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The future of next generation sequencing?


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From European Journal of Human Genetics

DNA methylation profiling of human placentas reveals promoter hypomethylation of multiple genes in early-onset preeclampsia FREE

Ryan KC Yuen, Maria S Peñaherrera, Peter von Dadelszen, Deborah E McFadden and Wendy P Robinson

Eur J Hum Genet 18: 1006-1012; advance online publication, May 5, 2010; doi:10.1038/ejhg.2010.63

The causality of de novo copy number variants is overestimated FREE

Joris R Vermeesch, Irina Balikova, Connie Schrander-Stumpel, Jean-Pierre Fryns and Koenraad Devriendt

Eur J Hum Genet 19: 1112-1113; advance online publication, May 18, 2011; doi:10.1038/ejhg.2011.83

The GENCODE exome: sequencing the complete human exome EJHGOpen

Alison J Coffey, Felix Kokocinski, Maria S Calafato, Carol E Scott, Priit Palta, Eleanor Drury, Christopher J Joyce, Emily M LeProust, Jen Harrow, Sarah Hunt, Anna-Elina Lehesjoki, Daniel J Turner, Tim J Hubbard and Aarno Palotie

Eur J Hum Genet 19: 827-831; advance online publication, March 2, 2011; doi:10.1038/ejhg.2011.28

Disease gene identification strategies for exome sequencing FREE

Christian Gilissen, Alexander Hoischen, Han G Brunner and Joris A Veltman

Eur J Hum Genet 20: 490-497; advance online publication, January 18, 2012; doi:10.1038/ejhg.2011.258

Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes FREE

Lídia Feliubadaló, Adriana Lopez-Doriga, Ester Castellsagué, Jesús del Valle, Mireia Menéndez, Eva Tornero, Eva Montes, Raquel Cuesta, Carolina Gómez, Olga Campos, Marta Pineda, Sara González, Victor Moreno, Joan Brunet, Ignacio Blanco, Eduard Serra, Gabriel Capellá and Conxi Lázaro

Eur J Hum Genet advance online publication, December 19, 2012; doi:10.1038/ejhg.2012.270

Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease FREE

Morag E Shanks, Susan M Downes, Richard R Copley, Stefano Lise, John Broxholme, Karl AZ Hudspith, Alexandra Kwasniewska, Wayne IL Davies, Mark W Hankins, Emily R Packham, Penny Clouston, Anneke Seller, Andrew OM Wilkie, Jenny C Taylor, Jiannis Ragoussis and Andrea H Németh

Eur J Hum Genet 21: 274-280; advance online publication, September 12, 2012; doi:10.1038/ejhg.2012.172

Advances in Alport syndrome diagnosis using next-generation sequencing FREE

Rosangela Artuso, Chiara Fallerini, Laura Dosa, Francesca Scionti, Maurizio Clementi, Guido Garosi, Laura Massella, Maria Carmela Epistolato, Roberta Mancini, Francesca Mari, Ilaria Longo, Francesca Ariani, Alessandra Renieri and Mirella Bruttini

Eur J Hum Genet 20: 50-57; advance online publication, September 7, 2011; doi:10.1038/ejhg.2011.164

An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophy EJHGOpen

Apollonia T J M Helderman-van den Enden, Kamlesh Madan, Martijn H Breuning, Annemieke H van der Hout, Egbert Bakker, Christine E M de Die-Smulders and Hendrika B Ginjaar

Eur J Hum Genet 21: 21-26; advance online publication, June 6, 2012; doi:10.1038/ejhg.2012.101

Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy FREE

Patricia Anne Boyd, Maria Loane, Ester Garne, Babak Khoshnood and Helen Dolk a EUROCAT working group

Eur J Hum Genet 19: 231-234; advance online publication, August 25, 2010; doi:10.1038/ejhg.2010.148

Non-invasive prenatal testing for single gene disorders: exploring the ethics FREE

Zuzana Deans, Melissa Hill, Lyn S Chitty and Celine Lewis

Eur J Hum Genet advance online publication, November 28, 2012; doi:10.1038/ejhg.2012.250

Rapid aneuploidy detection or karyotyping? Ethical reflection FREE

Antina de Jong, Wybo J Dondorp, Daniëlle RM Timmermans, Jan MM van Lith and Guido MWR de Wert

Eur J Hum Genet 19: 1020-1025; advance online publication, June 1, 2011; doi:10.1038/ejhg.2011.82

Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening FREE

Maria Loane, Joan K Morris, Marie-Claude Addor, Larraitz Arriola, Judith Budd, Berenice Doray, Ester Garne, Miriam Gatt, Martin Haeusler, Babak Khoshnood, Kari Klungsøyr Melve, Anna Latos-Bielenska, Bob McDonnell, Carmel Mullaney, Mary O'Mahony, Annette Queißer-Wahrendorf, Judith Rankin, Anke Rissmann, Catherine Rounding, Joaquin Salvador, David Tucker, Diana Wellesley, Lyubov Yevtushok and Helen Dolk

Eur J Hum Genet 21: 27-33; advance online publication, June 20, 2012; doi:10.1038/ejhg.2012.94

Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects FREE

Maria Arélin, Bernt Schulze, Bertram Müller-Myhsok, Denise Horn, Alexander Diers, Birgit Uhlenberg, Peter Nürnberg, Gudrun Nürnberg, Christian Becker, Stefan Mundlos, Tom H Lindner, Karl Sperling and Katrin Hoffmann

Eur J Hum Genet 21: 367-372; advance online publication, October 3, 2012; doi:10.1038/ejhg.2012.198

Genetic testing and common disorders in a public health framework FREE

Carla G van El and Martina C Cornel

Eur J Hum Genet 19: 377-381; advance online publication, January 26, 2011; doi:10.1038/ejhg.2010.176

Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities FREE

Frauke Becker, Carla G van El, Dolores Ibarreta, Eleni Zika, Stuart Hogarth, Pascal Borry, Anne Cambon-Thomsen, Jean Jacques Cassiman, Gerry Evers-Kiebooms, Shirley Hodgson, A Cécile J W Janssens, Helena Kaariainen, Michael Krawczak, Ulf Kristoffersson, Jan Lubinski, Christine Patch, Victor B Penchaszadeh, Andrew Read, Wolf Rogowski, Jorge Sequeiros, Lisbeth Tranebjaerg, Irene M van Langen, Helen Wallace, Ron Zimmern, Jörg Schmidtke and Martina C Cornel

Eur J Hum Genet 19: S6-S44; doi:10.1038/ejhg.2010.249

Not so simple: a quasi-experimental study of how researchers adjudicate genetic research results FREE

Robin Zoe Hayeems, Fiona Alice Miller, Li Li and Jessica Peace Bytautas

Eur J Hum Genet 19: 740-747; advance online publication, March 16, 2011; doi:10.1038/ejhg.2011.34

Strengthening the reporting of genetic risk prediction studies: the GRIPS statement EJHGOpen

A Cecile JW Janssens, John PA Ioannidis, Cornelia M van Duijn, Julian Little and Muin J Khoury for the GRIPS Group

Eur J Hum Genet 19: 833-836; advance online publication, March 16, 2011; doi:10.1038/ejhg.2011.25

Strengthening the reporting of genetic risk prediction studies (GRIPS): explanation and elaboration EJHGOpen

A Cecile JW Janssens, John PA Ioannidis, Sara Bedrosian, Paolo Boffetta, Siobhan M Dolan, Nicole Dowling, Isabel Fortier, Andrew N Freedman, Jeremy M Grimshaw, Jeffrey Gulcher, Marta Gwinn, Mark A Hlatky, Holly Janes, Peter Kraft, Stephanie Melillo, Christopher J O'Donnell, Michael J Pencina, David Ransohoff, Sheri D Schully, Daniela Seminara, Deborah M Winn, Caroline F Wright, Cornelia M van Duijn, Julian Little and Muin J Khoury

Eur J Hum Genet 19: ; advance online publication, March 16, 2011; doi:10.1038/ejhg.2011.27

Impact of gene patents on diagnostic testing: a new patent landscaping method applied to spinocerebellar ataxia FREE

Nele Berthels, Gert Matthijs and Geertrui Van Overwalle

Eur J Hum Genet 19: 1114-1121; advance online publication, August 3, 2011; doi:10.1038/ejhg.2011.109

The next controversy in genetic testing: clinical data as trade secrets? EJHGOpen

Robert Cook-Deegan, John M Conley, James P Evans and Daniel Vorhaus

Eur J Hum Genet 21: 585-588; advance online publication, November 14, 2012; doi:10.1038/ejhg.2012.217

Are the kids really all right? Direct-to-consumer genetic testing in children: are company policies clashing with professional norms? FREE

Heidi Carmen Howard, Denise Avard and Pascal Borry

Eur J Hum Genet 19: 1122-1126; advance online publication, June 1, 2011; doi:10.1038/ejhg.2011.94

Motivators for participation in a whole-genome sequencing study: implications for translational genomics research FREE

Flavia M Facio, Stephanie Brooks, Johanna Loewenstein, Susannah Green, Leslie G Biesecker and Barbara B Biesecker

Eur J Hum Genet 19: 1213-1217; advance online publication, July 6, 2011; doi:10.1038/ejhg.2011.123

Limits of DTC

Direct-to-consumer genetic testing services: what are the medical benefits? FREE

Thierry Frebourg

Eur J Hum Genet 20: 483; advance online publication, January 4, 2012; doi:10.1038/ejhg.2011.229

Reply to Ross' commentary: Reproductive benefit through newborn screening: preferences, policy and ethics FREE

Yvonne Bombard and Fiona A Miller

Eur J Hum Genet 20: 486-487; advance online publication, February 29, 2012; doi:10.1038/ejhg.2012.25

Disease gene identification strategies for exome sequencing FREE

Christian Gilissen, Alexander Hoischen, Han G Brunner and Joris A Veltman

Eur J Hum Genet 20: 490-497; advance online publication, January 18, 2012; doi:10.1038/ejhg.2011.258

Direct-to-consumer genomic testing: systematic review of the literature on user perspectives FREE

Lesley Goldsmith, Leigh Jackson, Anita O'Connor and Heather Skirton

Eur J Hum Genet 20: 811-816; advance online publication, February 15, 2012; doi:10.1038/ejhg.2012.18

An exploration of genetic health professionals' experience with direct-to-consumer genetic testing in their clinical practice FREE

Gemma R Brett, Sylvia A Metcalfe, David J Amor and Jane L Halliday

Eur J Hum Genet 20: 825-830; advance online publication, February 8, 2012; doi:10.1038/ejhg.2012.13

The changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe FREE

Ros Hastings, Guido de Wert, Brian Fowler, Michael Krawczak, Eric Vermeulen, Egbert Bakker, Pascal Borry, Wybo Dondorp, Niels Nijsingh, David Barton, Jörg Schmidtke, Carla G van El, Joris Vermeesch, Yrrah Stol, Heidi Carmen Howard and Martina C Cornel

Eur J Hum Genet 20: 911-916; advance online publication, March 28, 2012; doi:10.1038/ejhg.2012.56

Quality assurance practices in Europe: a survey of molecular genetic testing laboratories FREE

Sarah Berwouts, Katrina Fanning, Michael A Morris, David E Barton and Elisabeth Dequeker

Eur J Hum Genet 20: 1118-1126; advance online publication, June 27, 2012; doi:10.1038/ejhg.2012.125

Quality issues in genetic testing

Can (should) molecular diagnostic labs improve the quality of their services? FREE

Jean-Jacques Cassiman

Eur J Hum Genet 20: 1103-1104; advance online publication, June 27, 2012; doi:10.1038/ejhg.2012.126

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From Oncogene

Next-generation sequencing of endoscopic biopsies identifies ARID1A as a tumor-suppressor gene in Barrett’s esophagus

M M Streppel, S Lata, M DelaBastide, E A Montgomery, J S Wang, M I Canto, A M Macgregor-Das, S Pai, F H M Morsink, G J Offerhaus, E Antoniou, A Maitra and W R McCombie

Oncogene advance online publication, January 14, 2013; doi:10.1038/onc.2012.586

CHEK2 genomic and proteomic analyses reveal genetic inactivation or endogenous activation across the 60 cell lines of the US National Cancer Institute FREE

G Zoppoli, S Solier, W C Reinhold, H Liu, J W Connelly Jr, A Monks, R H Shoemaker, O D Abaan, S R Davis, P S Meltzer, J H Doroshow and Y Pommier

Oncogene 31: 403-418; advance online publication, July 18, 2011; doi:10.1038/onc.2011.283

CpG island shore methylation regulates caveolin-1 expression in breast cancer Open

X Rao, J Evans, H Chae, J Pilrose, S Kim, P Yan, R-L Huang, H-C Lai, H Lin, Y Liu, D Miller, J-K Rhee, Y-W Huang, F Gu, J W Gray, TH-M Huang and K P Nephew

Oncogene advance online publication, November 5, 2012; doi:10.1038/onc.2012.474