Practical considerations in the clinical application of whole‐exome sequencing-Reference-Cited by-同舟云学术

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Practical considerations in the clinical application of whole‐exome sequencing

Published:2015-03-15 Issue:2 Volume:89 Page:173-181
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Shashi V.¹,McConkie‐Rosell A.¹,Schoch K.¹,Kasturi V.¹,Rehder C.²,Jiang Y.H.¹,Goldstein D.B.³,McDonald M.T.¹

Affiliation:

1. Department of Pediatrics, Division of Medical GeneticsDuke University Medical Center Durham NC USA

2. Department of PathologyDuke University Medical Center Durham NC USA

3. Center for Human Genome VariationDuke University Medical Center Durham NC USA

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.12569

Reference28 articles.

1. The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders

2. Clinical application of exome sequencing in undiagnosed genetic conditions

3. Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

4. The usefulness of whole-exome sequencing in routine clinical practice

5. Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

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4. Genetic Testing in Children with Developmental and Epileptic Encephalopathies: A Review of Advances in Epilepsy Genomics;Children;2023-03-15

5. Reflexive standardization and the resolution of uncertainty in the genomics clinic;Social Studies of Science;2023-03-15

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