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

EVIDENCE, an automated variant prioritization system, has been developed to facilitate whole exome sequencing analyses. This study investigated the diagnostic yield of EVIDENCE in patients with suspected genetic disorders. DNA from 330 probands (age range, 0‐68 years) with suspected genetic disorder...

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Detalles Bibliográficos
Autores principales: Seo, Go Hun, Kim, Taeho, Choi, In Hee, Park, Jung‐young, Lee, Jungsul, Kim, Sehwan, Won, Dhong‐gun, Oh, Arum, Lee, Yena, Choi, Jeongmin, Lee, Hajeong, Kang, Hee Gyung, Cho, Hee Yeon, Cho, Min Hyun, Kim, Yoon Jeon, Yoon, Young Hee, Eun, Baik‐Lin, Desnick, Robert J., Keum, Changwon, Lee, Beom Hee
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7756481/
https://www.ncbi.nlm.nih.gov/pubmed/32901917
http://dx.doi.org/10.1111/cge.13848

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