Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories

Author:

Weiss Marjan M.1,Van der Zwaag Bert2,Jongbloed Jan D. H.3,Vogel Maartje J.2,Brüggenwirth Hennie T.4,Lekanne Deprez Ronald H.5,Mook Olaf5,Ruivenkamp Claudia A. L.6,van Slegtenhorst Marjon A.4,van den Wijngaard Arthur7,Waisfisz Quinten1,Nelen Marcel R.8,van der Stoep Nienke6

Affiliation:

1. Department of Clinical Genetics; VU University Medical Centre; Amsterdam; The Netherlands

2. Department of Medical Genetics; University Medical Centre Utrecht; Utrecht; The Netherlands

3. Department of Genetics; University Medical Centre Groningen; Groningen; The Netherlands

4. Department of Clinical Genetics; Erasmus Medical Centre; Rotterdam; The Netherlands

5. Department of Clinical Genetics; Academic Medical Centre; Amsterdam; The Netherlands

6. Department of Clinical Genetics; Leiden University Medical Centre; Leiden; The Netherlands

7. Department of Clinical Genetics; University Medical Centre Maastricht; Maastricht; The Netherlands

8. Department of Human Genetics; Radboud University Nijmegen Medical Centre; Nijmegen; The Netherlands

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference36 articles.

1. Dindel: accurate indel calls from short-read data;Albers;Genome Res,2011

2. Bell J Bodmer D Sistermans E Ramsden SC 2007 Practice guidelines for the Interpretation and Reporting of Unclassified Variants (UVs) in Clinical Molecular Genetics http://www.cmgs.org/BPGs/Best_Practice_Guidelines.htm

3. Deploying whole genome sequencing in clinical practice and public health: meeting the challenge one bin at a time;Berg;Genet Med,2011

4. To tell or not to tell? A systematic review of ethical reflections on incidental findings arising in genetics contexts;Christenhusz;Eur J Hum Genet,2013

5. Locus Reference Genomic sequences: an improved basis for describing human DNA variants;Dalgleish;Genome Med,2010

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