PMC:4067558 / 57242-58815 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/4067558","sourcedb":"PMC","sourceid":"4067558","source_url":"https://www.ncbi.nlm.nih.gov/pmc/4067558","text":"Table 1 Genome-wide Burden of Genes Intersected by Rare CNVs in a Combined Sample of 2,147 European ASD Affected Subjects and 2,640 European Control Subjects\nType Group Size No. of Rare Genic CNVs No. of Genes Intersected by Rare CNVs Baseline Gene Rate (Control) a Case-Control Gene Ratio p corr b\nAll all 6,859 6,745 3.55 1.41 0.00001∗\nDeletions all 2,946 2,804 1.23 1.40 0.00049∗\nDuplications all 3,913 5,217 2.32 1.41 0.00001∗\nAll 30–500 kb 6,307 5,163 2.89 1.07 0.03628∗\n\u003e500 kb 552 2,491 0.66 2.88 0.00001∗\n\u003e1 Mb 187 1,337 0.26 4.48 0.00001∗\nDeletions 30–500 kb 2,795 2,014 1.07 1.07 0.20110\n\u003e500 kb 151 947 0.16 3.60 0.00051∗\n\u003e1 Mb 63 647 0.08 4.58 0.02289∗\nDuplications 30–500 kb 3,512 3,934 1.83 1.08 0.03750∗\n\u003e500 kb 401 1,896 0.50 2.64 0.00026∗\n\u003e1 Mb 124 890 0.18 4.43 0.00036∗\nRare CNVs in samples of European ancestry were defined as ≥30 kb in size and present in the total sample set at a frequency \u003c 1%. Gene coordinates were defined by the RefSeq boundaries plus a 10 kb region on either side. All genomic analyses used UCSC Genome Browser hg18. ∗Significant differences (p ≤ 0.05) are indicated.\na The baseline gene rate (control) is defined as the average number of genes intersected by CNVs per control subject.\nb Genome-wide p values were estimated in 100,000 permutations (one sided) and additionally corrected (pcorr) for global case-control differences in CNV rate and size. Analyses were further stratified according to CNV type (deletions or duplications) and 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