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Pilot study of EVIDENCE: High diagnostic yield and clinical utility of whole exome sequencing using an automated interpretation system for patients with suspected genetic disorders
View ORCID ProfileGo Hun Seo, Taeho Kim, Jung-young Park, Jungsul Lee, Sehwan Kim, Dhong-gun Won, Arum Oh, Yena Lee, In Hee Choi, Jeongmin Choi, Hajeong Lee, Hee Gyung Kang, Hee Yeon Cho, Min Hyun Cho, Yoon Jeon Kim, Young Hee Yoon, Baik-Lin Eun, Robert J Desnick, Changwon Keum, View ORCID ProfileBeom Hee Lee
doi: https://doi.org/10.1101/628438
Go Hun Seo
13Billion, Inc., Seoul, South Korea
MD PhDTaeho Kim
2Biomedical Research Center, ASAN Institute for Life Sciences, University of Ulsan College of Medicine, Seoul, South Korea
PhDJung-young Park
13Billion, Inc., Seoul, South Korea
PhDJungsul Lee
13Billion, Inc., Seoul, South Korea
PhDSehwan Kim
13Billion, Inc., Seoul, South Korea
MSDhong-gun Won
13Billion, Inc., Seoul, South Korea
MSArum Oh
3Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea
MDYena Lee
3Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea
MDIn Hee Choi
4Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea
Jeongmin Choi
2Biomedical Research Center, ASAN Institute for Life Sciences, University of Ulsan College of Medicine, Seoul, South Korea
Hajeong Lee
5Department of Internal Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, South Korea
Hee Gyung Kang
6Department of Pediatrics, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, South Korea
MDHee Yeon Cho
7Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea
MDMin Hyun Cho
8Department of Pediatrics, School of Medicine, Kyungpook National University, Daegu, South Korea
MDYoon Jeon Kim
9Department of Ophthalmology, Asan Medical Center, University of Ulsan, Seoul, South Korea
MDYoung Hee Yoon
9Department of Ophthalmology, Asan Medical Center, University of Ulsan, Seoul, South Korea
MD PhDBaik-Lin Eun
10Department of Pediatrics, Korea University College of Medicine, Seoul, South Korea
MD PhDRobert J Desnick
11Department of Genetics and Genomic Sciences, Icahn School of Medicine, Mount Sinai Medical Center, New York, NY, USA
MD PhDChangwon Keum
13Billion, Inc., Seoul, South Korea
PhDBeom Hee Lee
3Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea
4Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea
MD PhD
Posted November 15, 2019.
Pilot study of EVIDENCE: High diagnostic yield and clinical utility of whole exome sequencing using an automated interpretation system for patients with suspected genetic disorders
Go Hun Seo, Taeho Kim, Jung-young Park, Jungsul Lee, Sehwan Kim, Dhong-gun Won, Arum Oh, Yena Lee, In Hee Choi, Jeongmin Choi, Hajeong Lee, Hee Gyung Kang, Hee Yeon Cho, Min Hyun Cho, Yoon Jeon Kim, Young Hee Yoon, Baik-Lin Eun, Robert J Desnick, Changwon Keum, Beom Hee Lee
bioRxiv 628438; doi: https://doi.org/10.1101/628438
Pilot study of EVIDENCE: High diagnostic yield and clinical utility of whole exome sequencing using an automated interpretation system for patients with suspected genetic disorders
Go Hun Seo, Taeho Kim, Jung-young Park, Jungsul Lee, Sehwan Kim, Dhong-gun Won, Arum Oh, Yena Lee, In Hee Choi, Jeongmin Choi, Hajeong Lee, Hee Gyung Kang, Hee Yeon Cho, Min Hyun Cho, Yoon Jeon Kim, Young Hee Yoon, Baik-Lin Eun, Robert J Desnick, Changwon Keum, Beom Hee Lee
bioRxiv 628438; doi: https://doi.org/10.1101/628438
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