Literature DB >> 26269248

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.

Terry Vrijenhoek, Ken Kraaijeveld, Martin Elferink, Joep de Ligt, Elcke Kranendonk, Gijs Santen, Isaac J Nijman, Derek Butler, Godelieve Claes, Adalberto Costessi, Wim Dorlijn, Winfried van Eyndhoven, Dicky J J Halley, Mirjam C G N van den Hout, Steven van Hove, Lennart F Johansson, Jan D H Jongbloed, Rick Kamps, Christel E M Kockx, Bart de Koning, Marjolein Kriek, Ronald Lekanne Dit Deprez, Hans Lunstroo, Marcel Mannens, Olaf R Mook, Marcel Nelen, Corrette Ploem, Marco Rijnen, Jasper J Saris, Richard Sinke, Erik Sistermans, Marjon van Slegtenhorst, Frank Sleutels, Nienke van der Stoep, Marianne van Tienhoven, Martijn Vermaat, Maartje Vogel, Quinten Waisfisz, Janneke Marjan Weiss, Arthur van den Wijngaard, Wilbert van Workum, Helger Ijntema, Bert van der Zwaag, Wilfred F J van IJcken, Johan T den Dunnen, Joris A Veltman, Raoul Hennekam, Edwin Cuppen.   

Abstract

Entities:  

Year:  2015        PMID: 26269248      PMCID: PMC4538204          DOI: 10.1038/ejhg.2015.44

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN: 1018-4813            Impact factor:   4.246


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Correction to: European Journal of Human Genetics advance online publication 28 January 2015; doi:10.1038/ejhg.2014.279 Post publication, the authors of this paper realised that Olaf R Mook, Department of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands, was not included in the list of authors. This has now been rectified and the corrected article appears in this issue. The authors would like to apologise for this omission.
  11 in total

1.  Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine.

Authors:  Kathryn B Garber; Lisa M Vincent; John J Alexander; Lora J H Bean; Sherri Bale; Madhuri Hegde
Journal:  Am J Hum Genet       Date:  2016-10-27       Impact factor: 11.025

Review 2.  Monogenic causes of stroke: now and the future.

Authors:  Rhea Y Y Tan; Hugh S Markus
Journal:  J Neurol       Date:  2015-06-03       Impact factor: 4.849

3.  Clinical Diagnosis of Mendelian Disorders Using a Comprehensive Gene-Targeted Panel Test for Next-Generation Sequencing.

Authors:  Tetsuya Okazaki; Megumi Murata; Masachika Kai; Kaori Adachi; Naoko Nakagawa; Noriko Kasagi; Wataru Matsumura; Yoshihiro Maegaki; Eiji Nanba
Journal:  Yonago Acta Med       Date:  2016-06-29       Impact factor: 1.641

4.  Comparative genomics of Tunisian Leishmania major isolates causing human cutaneous leishmaniasis with contrasting clinical severity.

Authors:  Amel Ghouila; Fatma Z Guerfali; Chiraz Atri; Aymen Bali; Hanene Attia; Rabiaa M Sghaier; Ghada Mkannez; Nicholas J Dickens; Dhafer Laouini
Journal:  Infect Genet Evol       Date:  2016-11-04       Impact factor: 3.342

5.  Experiences with obtaining informed consent for genomic sequencing.

Authors:  Barbara A Bernhardt; Myra I Roche; Denise L Perry; Sarah R Scollon; Ashley N Tomlinson; Debra Skinner
Journal:  Am J Med Genet A       Date:  2015-07-21       Impact factor: 2.802

Review 6.  Recommendations for the integration of genomics into clinical practice.

Authors:  Sarah Bowdin; Adel Gilbert; Emma Bedoukian; Christopher Carew; Margaret P Adam; John Belmont; Barbara Bernhardt; Leslie Biesecker; Hans T Bjornsson; Miriam Blitzer; Lisa C A D'Alessandro; Matthew A Deardorff; Laurie Demmer; Alison Elliott; Gerald L Feldman; Ian A Glass; Gail Herman; Lucia Hindorff; Fuki Hisama; Louanne Hudgins; A Micheil Innes; Laird Jackson; Gail Jarvik; Raymond Kim; Bruce Korf; David H Ledbetter; Mindy Li; Eriskay Liston; Christian Marshall; Livija Medne; M Stephen Meyn; Nasim Monfared; Cynthia Morton; John J Mulvihill; Sharon E Plon; Heidi Rehm; Amy Roberts; Cheryl Shuman; Nancy B Spinner; D James Stavropoulos; Kathleen Valverde; Darrel J Waggoner; Alisha Wilkens; Ronald D Cohn; Ian D Krantz
Journal:  Genet Med       Date:  2016-05-12       Impact factor: 8.822

7.  Scenario drafting for early technology assessment of next generation sequencing in clinical oncology.

Authors:  S E P Joosten; V P Retèl; V M H Coupé; M M van den Heuvel; W H van Harten
Journal:  BMC Cancer       Date:  2016-02-06       Impact factor: 4.430

8.  Evaluation of copy number variant detection from panel-based next-generation sequencing data.

Authors:  Ruen Yao; Tingting Yu; Yanrong Qing; Jian Wang; Yiping Shen
Journal:  Mol Genet Genomic Med       Date:  2018-11-22       Impact factor: 2.183

9.  A capillary electrophoresis-based multiplex PCR assay for expanded carrier screening in the eastern Han Chinese population.

Authors:  Ping Hu; Jianxin Tan; Feng Yu; Binbin Shao; Fang Zhang; Jingjing Zhang; Yingchun Lin; Tao Tao; Lili Jiang; Zhengwen Jiang; Zhengfeng Xu
Journal:  NPJ Genom Med       Date:  2022-01-25       Impact factor: 8.617

10.  Evaluating the necessity of PCR duplicate removal from next-generation sequencing data and a comparison of approaches.

Authors:  Mark T W Ebbert; Mark E Wadsworth; Lyndsay A Staley; Kaitlyn L Hoyt; Brandon Pickett; Justin Miller; John Duce; John S K Kauwe; Perry G Ridge
Journal:  BMC Bioinformatics       Date:  2016-07-25       Impact factor: 3.169

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