数据链接：
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资源简介：
Recurrent CNVs with a pathogenic profile.
应用场景：
创建时间：
2018-04-24
相关数据集
Additional file 1 of X-CNV: genome-wide prediction of the pathogenicity of copy number variations
Additional file 1. Table S1. The sample information of the natural population collected from dbVar and DGV. Table S2. The 19,575 CNVs from dbVar used for model training. Table S3. The 8966 CNVs used f
Figshare2024-02-07 更新80
Additional file 1 of X-CNV: genome-wide prediction of the pathogenicity of copy number variations
Additional file 1. Table S1. The sample information of the natural population collected from dbVar and DGV. Table S2. The 19,575 CNVs from dbVar used for model training. Table S3. The 8966 CNVs used f
Figshare2021-08-18 更新60
Additional file 1: of Effects of pathogenic CNVs on physical traits in participants of the UK Biobank
Table S1. All results from linear regression analysis. Separate tables are provided for each CNV. (DOCX 1040 kb) (XLSX 335 kb)
Figshare2018-12-04 更新40
Noninvasive Prenatal Detection for Pathogenic CNVs: The Application in α-Thalassemia
Background The discovery of cell free fetal DNA (cff-DNA) in maternal plasma has brought new insight for noninvasive prenatal diagnosis. Combining with the rapidly developed massively parallel sequenc
NIAID Data Ecosystem60
Additional file 1 of dbCNV: deleteriousness-based model to predict pathogenicity of copy number variations
Additional file 1: Supplementary Table 1. List of features used by dbCNV. Supplementary Table 2. Internal dataset. Supplementary Table 3. P values for pairwise comparisons of feature values.
NIAID Data Ecosystem50
