Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing-Reference-Cited by-同舟云学术

Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing

Author:

Williams Emma L.¹,Bagg Eleanor A. L.¹,Mueller Michael²,Vandrovcova Jana³,Aitman Timothy J.³⁴,Rumsby Gill⁵

Affiliation:

1. Clinical Biochemistry; Imperial College Healthcare; London United Kingdom

2. Clinical Genome Informatics Facility; Department of Medicine; Imperial College London; London United Kingdom

3. MRC Clinical Sciences Centre; Faculty of Medicine; Imperial College London; London United Kingdom

4. Institute of Genetics and Molecular Medicine; University of Edinburgh; Edinburgh United Kingdom

5. Clinical Biochemistry; UCL Hospitals; London United Kingdom

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Reference29 articles.

2. Approximate is better than “exact” for interval estimation of binomial proportions;Agresti;Am. Stat.,1998

5. Genetic testing in renal disease;Bockenhauer;Pediatr. Nephrol.,2012

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