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Additional file 2 of Clinical efficiency of simultaneous CNV-seq and whole-exome sequencing for testing fetal structural anomalies

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posted on 2022-01-04, 05:09 authored by Xinlin Chen, Yulin Jiang, Ruiguo Chen, Qingwei Qi, Xiujuan Zhang, Sheng Zhao, Chaoshi Liu, Weiyun Wang, Yuezhen Li, Guoqiang Sun, Jieping Song, Hui Huang, Chen Cheng, Jianguang Zhang, Longxian Cheng, Juntao Liu
Additional file 2: Figure S2. Distribution of diagnostic yield of the different consequences of alterations in each phenotypic class. CNVs were detailed categorized into exonic CNVs (calling by exonic reads) and other CNVs. Variants were classified into variants related to syndrome and single gene disorder (nonsyndromic). CNV copy number variation; CNS central nervous system; AW abdominal wall; NT: nuchal translucency.

Funding

CAMS Innovation Fund for Medical Sciences (CIFMS) National Key R&D Program of China Hubei Province health and family planning scientific research project Hubei Province Natural Science Foundation Key R&D Program of Hubei Science and Technology Department Key Program of Hubei Science and Technology Department aiding Xinjiang and Tibet Province

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    Journal of Translational Medicine

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    Keywords

    Whole-exome sequencingPrenatal diagnosisCNV-seqStructural anomaly

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