Additional file 4: of Effects of pathogenic CNVs on physical traits in participants of the UK Biobank
Year: 2018
Type: dataset
Abstract: Table S2. List of the 92 CNVs considered for analysis. “Significant (Coe, 2014)” indicates the CNVs that have been shown to be significantly associated with developmental delay, autism spectrum disorders or multiple congenital anomalies in that study [23]. “Genomic disorder (Dittwald et al, 2013)” indicates the CNVs included in the study by Dittwald et al. [32] as implicated in genomic disorders or clinically significant phenotypes. “Unreliable” indicates those CNVs (mostly telomeric) that produced calls predominantly on arrays that failed QC. This indicates that they could generate false-positive calls even on arrays that pass QC and therefore were excluded from analysis. “Rare” CNVs are those with
Source: Figshare
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W4394145303