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The clinical utility of next-generation sequencing for identifying chromosome disease syndromes in human embryos  Junmei Fan, Li Wang, Hui Wang, Minyue.

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Presentation on theme: "The clinical utility of next-generation sequencing for identifying chromosome disease syndromes in human embryos  Junmei Fan, Li Wang, Hui Wang, Minyue."— Presentation transcript:

1 The clinical utility of next-generation sequencing for identifying chromosome disease syndromes in human embryos  Junmei Fan, Li Wang, Hui Wang, Minyue Ma, Shufang Wang, Zhongyu Liu, Genming Xu, Jianguang Zhang, David S. Cram, Yuanqing Yao  Reproductive BioMedicine Online  Volume 31, Issue 1, Pages (July 2015) DOI: /j.rbmo Copyright © 2015 Reproductive Healthcare Ltd. Terms and Conditions

2 Figure 1 Array comparative genomic hybridization (CGH) and copy number variation sequencing (CNV-Seq) chromosome profiles of disease copy number variations in genomic DNA samples. Top panel (array CGH) and lower panel (CNV-Seq). (A) Unbalanced t(1;X)(q22,p11.21) translocation (mental retardation); (B) 4p15.1-pter duplication and 5p14.1-pter deletion (Cri du Chat syndrome); (C) 5p15.1-pter duplication and 5q35.2-qter deletion (Sotos syndrome). CNVs are indicated by boxes. There was a high degree of concordance for CNV detection between array CGH and CNV-Seq. Reproductive BioMedicine Online  , 62-70DOI: ( /j.rbmo ) Copyright © 2015 Reproductive Healthcare Ltd. Terms and Conditions

3 Figure 2 Copy number variation sequencing profiles of CNVs in one and five cell samples. Top panel (genomic DNA), middle panel (five cell sample) and lower panel (one cell sample). CNVs are indicated by boxes. CNV-Seq reliably and accurately detected six of the seven CNVs down to the single cell level (exception the 0.56 Mb 13q14.11 duplication in both one and five cell samples). Reproductive BioMedicine Online  , 62-70DOI: ( /j.rbmo ) Copyright © 2015 Reproductive Healthcare Ltd. Terms and Conditions

4 Figure 3 Pathogenic copy number variations detected in two PGD embryos. (A) Sotos syndrome; (B) 7p terminal deletion syndrome. CNVs are indicated by boxes. Reproductive BioMedicine Online  , 62-70DOI: ( /j.rbmo ) Copyright © 2015 Reproductive Healthcare Ltd. Terms and Conditions

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