Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE-Reference-Cited by-同舟云学术

Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE

Published:2020-09-17 Issue:6 Volume:98 Page:562-570
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Seo Go Hun¹,Kim Taeho²,Choi In Hee³,Park Jung‐young¹,Lee Jungsul¹,Kim Sehwan¹,Won Dhong‐gun¹,Oh Arum⁴,Lee Yena⁴,Choi Jeongmin²,Lee Hajeong⁵,Kang Hee Gyung⁶,Cho Hee Yeon⁷,Cho Min Hyun⁸,Kim Yoon Jeon⁹,Yoon Young Hee⁹,Eun Baik‐Lin¹⁰,Desnick Robert J.¹¹^ORCID,Keum Changwon¹,Lee Beom Hee³⁴^ORCID

Affiliation:

1. Division of Medical genetics 3billion Inc. Seoul South Korea

2. Biomedical Research Center, Asan Institute for Life Sciences University of Ulsan College of Medicine Seoul South Korea

3. Medical Genetics Center, Asan Medical Center University of Ulsan College of Medicine Seoul South Korea

4. Department of Pediatrics, Asan Medical Center University of Ulsan College of Medicine Seoul South Korea

5. Department of Internal Medicine Seoul National University Hospital, Seoul National University College of Medicine Seoul South Korea

6. Department of Pediatrics Seoul National University Hospital, Seoul National University College of Medicine Seoul South Korea

7. Department of Pediatrics, Samsung Medical Center Sungkyunkwan University School of Medicine Seoul South Korea

8. Department of Pediatrics, School of Medicine Kyungpook National University Daegu South Korea

9. Department of Ophthalmology, Asan Medical Center University of Ulsan Seoul South Korea

10. Department of Pediatrics Korea University College of Medicine Seoul South Korea

11. Department of Genetics and Genomic Sciences, Icahn School of Medicine Mount Sinai Medical Center New York New York USA

Funder

Institute for Information and Communications Technology Promotion

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13848

Reference37 articles.

1. OMIM®.Online Mendelian Inheritance in Man®.2019Accessed November 15 2019

2. Rare-disease genetics in the era of next-generation sequencing: discovery to translation

3. Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases

4. Clinical application of whole-exome sequencing across clinical indications

5. Clinical validity of phenotype-driven analysis software PhenoVar as a diagnostic aid for clinical geneticists in the interpretation of whole-exome sequencing data

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