Low-pass whole-genome sequencing in clinical cytogenetics: A validated approach

Genetics in Medicine

Volumn 18, Issue 9, 2016, Pages 940-948

  Dong, Zirui ^a,b   Zhang, Jun ^c   Hu, Ping ^d   Chen, Haixiao ^a   Xu, Jinjin ^a   Tian, Qi ^c   Meng, Lu ^d   Ye, Yanchou ^c   Wang, Jun ^a   Zhang, Meiyan ^a   Li, Yun ^a   Wang, Huilin ^b   Yu, Shanshan ^a   Chen, Fang ^a,e,f   Xie, Jiansheng ^g   Jiang, Hui ^a   Wang, Wei ^a,e   Choy, Kwong Wai ^b   Xu, Zhengfeng ^d  

^a BGI SHENZHEN   (China)

^b CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^c SUN YAT SEN UNIVERSITY   (China)

^d NANJING MEDICAL UNIVERSITY   (China)

^e BGI Shenzhen ^*  (China)

^f UNIVERSITY OF COPENHAGEN   (Denmark)

^g Maternal and Child Health Hospital of Shenzhen   (China)

Author keywords

molecular karyotyping; next generation sequencing; pathogenic copy number variants

Indexed keywords

ABORTION; ADOLESCENT; ADULT; ANEUPLOIDY; ARTICLE; CHILD; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; COPY NUMBER VARIATION; CYTOGENETICS; DIAGNOSTIC VALUE; FEASIBILITY STUDY; FEMALE; GENE TECHNOLOGY; GENOME; HUMAN; INFANT; MAJOR CLINICAL STUDY; MEDICAL GENETICS; MOSAICISM; MULTICENTER STUDY; NEWBORN; NEXT GENERATION SEQUENCING; PERINATAL PERIOD; PIPELINE; PRACTICE GUIDELINE; PRENATAL PERIOD; STILLBIRTH; VALIDATION STUDY; CHROMOSOME DISORDER; GENETICS; HIGH THROUGHPUT SEQUENCING; HUMAN GENOME; MALE; MICROARRAY ANALYSIS; PATHOLOGY; PRENATAL DIAGNOSIS; PROCEDURES; SPONTANEOUS ABORTION;

ABORTION, SPONTANEOUS; CHROMOSOME DISORDERS; CYTOGENETICS; DNA COPY NUMBER VARIATIONS; FEMALE; GENOME, HUMAN; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MICROARRAY ANALYSIS; PRENATAL DIAGNOSIS; STILLBIRTH;

EID: 84985021248     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2015.199     Document Type: Article

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