A Robust Approach for Blind Detection of Balanced Chromosomal Rearrangements with Whole-Genome Low-Coverage Sequencing

Human Mutation

Volumn 35, Issue 5, 2014, Pages 625-636

  Dong, Zirui ^a   Jiang, Lupin ^b   Yang, Chuanchun ^a   Hu, Hua ^b   Wang, Xiuhua ^a   Chen, Haixiao ^a   Choy, Kwong Wai ^c,d   Hu, Huamei ^b   Dong, Yanling ^b   Hu, Bin ^b   Xu, Juchun ^b   Long, Yang ^b   Cao, Sujie ^a,e   Chen, Hui ^a   Wang, Wen Jing ^a   Jiang, Hui ^a,f,g,h   Xu, Fengping ^a   Yao, Hong ^b   Xu, Xun ^a   Liang, Zhiqing ^b  

^a BGI SHENZHEN   (China)

^b THIRD MILITARY MEDICAL UNIVERSITY   (China)

^c CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^d UTRECHT UNIVERSITY   (Netherlands)

^e Clinical Laboratory of BGI Health   (China)

^f BGI Shenzhen   (China)

^g Shenzhen Municipal Development and Reform Commission   (China)

^h Key Laboratory of Cooperation Project in Guangdong Province   (China)

Author keywords

Balanced chromosomal rearrangement; Blind detection; Next generation sequencing; Whole genome low coverage

Indexed keywords

ARTICLE; BALANCED CHROMOSOMAL REARRANGEMENT; CHROMOSOME ABERRATION; CHROMOSOME REARRANGEMENT; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; CYTOGENETICS; FALSE POSITIVE RESULT; FILTRATION; GENE MAPPING; GENE SEQUENCE; GENOME; HUMAN; KARYOTYPING; PATIENT INFORMATION; PRIORITY JOURNAL; VALIDATION STUDY; CHROMOSOME DISORDERS; CHROMOSOME MAP; GENE TRANSLOCATION; GENETICS; HIGH THROUGHPUT SEQUENCING; HUMAN GENOME; PROCEDURES;

CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CHROMOSOME MAPPING; GENOME, HUMAN; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; KARYOTYPING; TRANSLOCATION, GENETIC;

EID: 84898775166     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22541     Document Type: Article

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