JAX-CNV: A Whole-genome Sequencing-based Algorithm for Copy Number Detection at Clinical Grade Level.

Lee, Wan-Ping; Zhu, Qihui; Yang, Xiaofei; Liu, Silvia; Cerveira, Eliza; Ryan, Mallory; Mil-Homens, Adam; Bellfy, Lauren; Ye, Kai; Lee, Charles; Zhang, Chengsheng

Lee, Wan-Ping; Zhu, Qihui; Yang, Xiaofei; Liu, Silvia; Cerveira, Eliza; Ryan, Mallory; Mil-Homens, Adam; Bellfy, Lauren; Ye, Kai; Lee, Charles; Zhang, Chengsheng.

Afiliación

Lee WP; Precision Medicine Center, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an 710061, China; The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA; School of Cyber Science and Engineering, Xi'an Jiaotong University, Xi'an 710049, China; Department of Pathology and Lab
Zhu Q; The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA.
Yang X; The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA; School of Computer Science and Technology, Faculty of Electronic and Information Engineering, Xi'an Jiaotong University, Xi'an 710049, China; MOE Key Lab for Intelligent Networks & Networks Security, Faculty of Electronic an
Liu S; The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA.
Cerveira E; The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA.
Ryan M; The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA.
Mil-Homens A; The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA.
Bellfy L; The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA.
Ye K; Precision Medicine Center, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an 710061, China; MOE Key Lab for Intelligent Networks & Networks Security, Faculty of Electronic and Information Engineering, Xi'an Jiaotong University, Xi'an 710049, China.
Lee C; Precision Medicine Center, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an 710061, China; The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA; Department of Life Sciences, Ewha Womans University, Seoul 03760, South Korea.
Zhang C; Precision Medicine Center, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an 710061, China; The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA. Electronic address: cszhang99@xjtu.edu.cn.

Genomics Proteomics Bioinformatics ; 20(6): 1197-1206, 2022 12.

Article en En | MEDLINE | ID: mdl-35085778

Asunto(s)

Algoritmos; Variaciones en el Número de Copia de ADN; Humanos; Secuenciación Completa del Genoma

Palabras clave

Chromosomal microarray assay; Copy number variant; Genetic testing; JAX-CNV; Whole-genome sequencing

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Algoritmos / Variaciones en el Número de Copia de ADN Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Genomics Proteomics Bioinformatics Asunto de la revista: BIOQUIMICA / GENETICA / INFORMATICA MEDICA Año: 2022 Tipo del documento: Article

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