A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases-Reference-Cited by-同舟云学术

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

Published:2013-10-18 Issue:12 Volume:34 Page:1721-1726
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Neveling Kornelia¹²,Feenstra Ilse¹,Gilissen Christian¹²³⁴,Hoefsloot Lies H.¹⁵,Kamsteeg Erik-Jan¹,Mensenkamp Arjen R.¹⁶,Rodenburg Richard J. T.²³⁷,Yntema Helger G.¹,Spruijt Liesbeth¹⁶,Vermeer Sascha¹,Rinne Tuula¹,van Gassen Koen L.¹,Bodmer Danielle¹,Lugtenberg Dorien¹,de Reuver Rick¹,Buijsman Wendy¹,Derks Ronny C.¹,Wieskamp Nienke¹²,van den Heuvel Bert²³⁷,Ligtenberg Marjolijn J.L.¹⁶,Kremer Hannie¹³⁵,Koolen David A.¹,van de Warrenburg Bart P.C.⁸,Cremers Frans P.M.¹³,Marcelis Carlo L.M.¹,Smeitink Jan A.M.²³⁷,Wortmann Saskia B.⁷,van Zelst-Stams Wendy A.G.¹,Veltman Joris A.¹²³,Brunner Han G.¹²³,Scheffer Hans¹²,Nelen Marcel R.¹

Affiliation:

1. Department of Human Genetics; Radboud university medical center; Nijmegen The Netherlands

2. Institute for Genetic and Metabolic Disease; Radboud university medical centre; Nijmegen The Netherlands

3. Nijmegen Center for Molecular Life Sciences; Radboud university medical centre; Nijmegen The Netherlands

4. Center for Medical Genetics and Molecular Medicine; Haukeland University Hospital; Bergen Norway

5. Department of Ear, Nose and Throat Diseases; Radboud university medical centre; Nijmegen The Netherlands

6. Research Institute for Oncology; Radboud university medical centre; Nijmegen The Netherlands

7. Department of Pediatrics; Radboud university medical centre; Nijmegen The Netherlands

8. Department of Neurology; Radboud university medical centre; Nijmegen The Netherlands

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference31 articles.

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3. Bell J Bodmer D Sistermans E Ramsden SC 2007 Practice guidelines for the interpretation and reporting of unclassified variants ( UV s) in clinical molecular genetics Clin Mol Genet Soc http://cmgsweb.shared.hosting.zen.co.uk/BPGs/pdfs%20current%20bpgs/UV%20GUIDELINES%20ratified.pdf

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

5. Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration;Briggs;Invest Ophthalmol Vis Sci,2001

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