Additional file 1: Table S1. of cnvScan: a CNV screening and annotation tool to improve the clinical utility of computational CNV prediction from exome sequencing data

Statistical methods used to calculate CNV quality scores. Table S2. CNVQ ratio for common TP CNVs. Table S3. Format of the cnvScan input file. Figure S1. Overview of cnvScan algorithm. Figure S2. CNV length vs Quality score for five CNV prediction programs. Figure S3. GC % vs Quality score for five CNV prediction programs. Figure S4. Length of simple repeats internal to CNVs vs Quality score for five CNV prediction programs. Figure S5a. Coverage of duplications vs Quality score for five CNV prediction programs. Figure S5b. Coverage of deletions vs Quality score for five CNV prediction programs. Figure S6. TP and FP counts in the in-house CNV database. Figure S7. Comparison of filtration efficiency using default quality score, CNVQ, database CNV count. Figure S8. Filtration efficiency of XHMM. Text S1. In-house database creation. Text S2. Thresholds used in CoNIFER and XHMM predictions. (PDF 2191 kb